Alexander Hoischen @ahoischen Twitter profile

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@SamMehta

@stw46

Alexander Hoischen

@ahoischen

4 years

1/7 TLR7 loss-of-functions mutations can lead to an immunodeficiency with a strong predisposition to develop a severe form of COVID-19 in young male patients.

Presence of Genetic Variants Among Young Men With Severe COVID-19

This case series describes rare putative X-chromosomal loss-of-function variants associated with impaired peripheral mononuclear blood cell interferon signaling in 4 young male patients hospitalized...

jamanetwork.com

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Alexander Hoischen

@ahoischen

2 years

Very happy our 2nd SAPHYR system was delivered and installed today. So even more optical genome mapping enabled now! @radboudumc @GeneticNijmegen @bionanogenomics #leukemia #rarediseases #SVs

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Alexander Hoischen

@ahoischen

3 years

And another manuscript in which we can show the power of long read technologies to identify hidden SVs. Here combination of @bionanogenomics OGM and @PacBio HiFi genomes helped to find a retrotransposon insertion that standard assays missed.

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Alexander Hoischen

@ahoischen

5 years

Honored and grateful that @radboudumc appointed me as associated professor “genomic technologies & immuno-genomics” today. Thanks to a fantastic research group and all collaborators! ...many great scientific discoveries ahead...

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Alexander Hoischen

@ahoischen

1 year

Bitter sweet day! Farewell symposium for Han Brunner - with brilliant presentations by the outstanding @EichlerEE @mehurles @Ddysmo and our very own Job Verdonschot @gilissenc

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Alexander Hoischen

@ahoischen

2 years

Delivery and install of the #Revio - thanks @PacBio . Happy to push long-read genomes for clinical and rare disease research. Game changed! @radboudumc @GeneticNijmegen

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Alexander Hoischen

@ahoischen

5 months

Thanks to my incredible team! Impossible without you!

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Alexander Hoischen

@ahoischen

1 year

Congratulations to our very own Han Brunner @radboudumc @GeneticNijmegen @MaastrichtUMC #ESHG2023

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Alexander Hoischen

@ahoischen

5 months

Seems everyone from @GeneticNijmegen is totally ready for #eshg2024 . Talks ready, session chairs are prepared…and everyone is keen to attend all sessions - and that’s not only because of the #ESHG2024 -bingocard - thanks @lydiasagath

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Alexander Hoischen

@ahoischen

6 months

Very please with our latest preprint. Great work by the @Solve_RD long-read working group with the entire consortium. Huge effort driven by @SteyaertWouter and @lydiasagath and of course @gilissenc @LisenkaVissers all sequencing done at @GeneticNijmegen .

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilised 10-fold coverage HiFi long-read...

www.medrxiv.org

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Alexander Hoischen

@ahoischen

3 years

Awesome! @MantereTuomo was essential in setting up OGM @radboudumc - great to see him thrive in Finland - and push for OGM use there. I am sure this innovative approach will allow new discoveries! Happy mapping in Oulu!

Tuomo Mantere

@MantereTuomo

3 years

Happy and proud to have our lab all set for new research projects using @Bionanogenomics optical genome mapping! #BreastCancer #Leukemia #RareDisease @UniOulu @SuomenAkatemia

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Alexander Hoischen

@ahoischen

2 years

I think of OGM as ‘cytogenetics on steroids’ - now this collaboration with ⁦ @bionanogenomics ⁩ and Hamilton Robotics allows to scale up!

Alexander Hoischen on LinkedIn: We are very happy to further expand our great collaboration with...

We are very happy to further expand our great collaboration with Hamilton Robotics and Bionano - next generation cytogenetics at high throughput!

www.linkedin.com

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Alexander Hoischen

@ahoischen

4 years

Our latest manuscript. Long-read genomes for comprehensive SV detection in patient-patent trios. Great work by Marc, Erdi @LisenkaVissers @gilissenc . Also many thanks to Aaron, Primo and many others @PacBio !

Long-read trio sequencing of individuals with unsolved intellectual disability

European Journal of Human Genetics - Long-read trio sequencing of individuals with unsolved intellectual disability

www.nature.com

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Alexander Hoischen

@ahoischen

5 months

Mendel award time at #eshg2024 . To one of my all-time genomics heroes Jim Lupski! Incredibly how his smart work - with the amazing team he built over decades at @bcmhouston has influenced our field. What an honor Jim and his family took the enormous effort to join @eshgsociety

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Alexander Hoischen

@ahoischen

3 years

Great effort by my former colleague and collaborator Detlef Trost and team @CERBA . One of the biggest cytogenetics laboratories in the world starts utilizing OGM aka “next generation cytogenetics”. Looking forward collaborating on these projects Detlef!

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Alexander Hoischen

@ahoischen

5 months

We are honored you all took the effort. What amazing three days. —> and we have reached 10(!!!) diagnoses (of 42 undiagnosed RD cases). Incredibly strong community and commitment by so many.

Aimé Lumaka

@aimelumaka

5 months

Today was the last day of the #undiagnoseddiseaseshackathon in #Nijmegen . I'm proud of all the scientists who came from all around the world to offer their expertise to solve undiagnosed patients. Thank you @WilhelmFound #Wendy @ahoischen @LisenkaVissers all the #Nijmegen team

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Alexander Hoischen

@ahoischen

5 years

We call it: Next generation cytogenetics! Very proud of our amazing team here. We used Bionano’s genome imaging technology to test 48 clinically well studied leukemia samples to test its utility:

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Alexander Hoischen

@ahoischen

2 years

So exciting - a full week of ‘informal summer school’ in Nijmegen. >35 enthusiastic visitors at @radboudumc @GeneticNijmegen : Part 1 - “NGS for clinical applications” and now Part 2 - two full days of “optical genome mapping”

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Alexander Hoischen

@ahoischen

5 months

Wow - what an ESHG #eshg2024 Probably the best ever! My most important personal lessons: - Collaboration, collaboration, collaboration! (1/n)

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Alexander Hoischen

@ahoischen

3 years

We are very pleased to share the results of these two proof-of-concept studies: (1/n)

Optical genome mapping enables constitutional chromosomal aberration detection

Chromosomal aberrations including structural variations (SVs) are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics. Drawbacks of...

www.cell.com

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Alexander Hoischen

@ahoischen

1 year

Some of the speakers arrived in style #eshg2023

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Alexander Hoischen

@ahoischen

9 months

In 1h I’ll present unpublished data of our first ~400 HiFi Revio genomes. Be mild: back home it will be 3am (proper night session this), and also my first talk ever in the Computational Biology session. #agbt24

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Alexander Hoischen

@ahoischen

8 months

I am overly excited to announce this. Humbled and honored my project was selected - many thanks to all (anonymous) expert reviewers and jury members for their efforts.

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Alexander Hoischen

@ahoischen

3 years

On my way for my first “business travel” in the pandemic. Excited to talk at the human genetics department Heidelberg and @unil symposium VEGAS about our work on ‘optical genome mapping or next generation cytogenetics’ thanks Alex Reymond and @cpschaaf for the kind invitations.

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Alexander Hoischen

@ahoischen

4 years

Registration for our “Clinical Genomics and NGS” course - aka Bertinoro course is now open. This will be fully virtual program - which therefore allows many more people around the globe to join; we purposely keep registration very low: 50€ only.

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Alexander Hoischen

@ahoischen

1 year

That was a great “poster session” thanks @PacBio ! I’d propose this speaker for a poster price, great Q&A and interaction with audience #ashg23

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Alexander Hoischen

@ahoischen

1 year

Want to read our latest manuscript? 8 HiFi high coverage trios for systematic de novo mutation discovery - on all variant levels! Just the start to many more HiFi genomes - especially with our new Revio… @radboudumc @GeneticNijmegen

Comprehensive de novo mutation discovery with HiFi long-read sequencing - Genome Medicine

Background Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substi...

genomemedicine.biomedcentral.com

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Alexander Hoischen

@ahoischen

9 months

Excited to be one of the early-access site for the new Stratys instrument. Thrilled by the (long-read genomics) innovations happening at @GeneticNijmegen @radboudumc ! @nevelingk @JannekeWeiss @LisenkaVissers

Bionano Announces Full Commercial Release of the Stratys™ System for High Throughput Optical Genome...

Bionano has completed the early access program for the Stratys™ system and is now making it available in a full commercial releaseThe Stratys instrument...

www.globenewswire.com

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Alexander Hoischen

@ahoischen

2 years

Now the most humble giant of genomics - Jay Shendure, giving the Mendel award lecture #ESHG2022

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Alexander Hoischen

@ahoischen

7 months

Very happy to present our latest finding. Proud of our incredible team @radboudumc @GeneticNijmegen and grateful to all collaborators! @CasvdMade @radboudumc_weet

AJHG

@AJHGNews

7 months

📢New from @ahoischen & colleagues! 📰 Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

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Alexander Hoischen

@ahoischen

5 years

New review paper by my fantastic postdoc Tuomo and equally fantastic PhD student Simone. Nice overview of latest developments in NGS and of the value of long-reads in medical genetics.

Frontiers | Long-Read Sequencing Emerging in Medical Genetics

The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of...

www.frontiersin.org

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Alexander Hoischen

@ahoischen

3 years

Good reason to get up early - the what’s new session never lets you down! Amazing work by so many great talented (young) scientists! The human genetics future is bright! #ESHG2021

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Alexander Hoischen

@ahoischen

11 months

And more record opportunities at #RevioHiFiOlympics - our second Revio arrived! @GeneticNijmegen @radboudumc @radboudumc_weet @JannekeWeiss @LisenkaVissers

Alexander Hoischen

@ahoischen

11 months

New record for us is 123.77Gb! Well done by our team at @GeneticNijmegen @radboudumc

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Alexander Hoischen

@ahoischen

5 months

And now @ceclindgren receiving the so well deserved ESHG award #eshg2024

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Alexander Hoischen

@ahoischen

2 years

On our way to our „Bertinoro“ course „Clinical Genomics and NGS“ - looking forward to see everyone again in person! @eshgsociety #bertinoro2022

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Alexander Hoischen

@ahoischen

4 years

Very happy to share our latest @biorxivpreprint . Optical mapping may change how cytogenetics is done - 100% concordance with classical approaches; more comprehensive: 85 cases 100 clinically reported aberrations #nextgenerationcytogenetics @bionanogenomics

Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for...

Chromosomal aberrations and structural variations are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics, karyotyping and CNV-microar...

www.biorxiv.org

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Alexander Hoischen

@ahoischen

2 years

Just finishing our SPC meeting in Vienna @eshgsociety #eshg2022 #eshg2023 - if all suggested speakers accept our invitations now; we have: 1) and outstanding program; 2) perfect gender balance.

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Alexander Hoischen

@ahoischen

2 years

Ready for #ESHG2022 take-off. On our way with ~50 colleagues from @GeneticNijmegen @radboudumc . How have we missed this - finally meeting many friends & colleagues in person again, and getting the latest of exciting science!

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Alexander Hoischen

@ahoischen

4 months

Proud PI moment: Our very own @Bart_vd_S defended his fantastic thesis today. Congratulations Dr Bart! @LisenkaVissers , Han and I were delighted to be your “promotion team” -amazing to see you grow as an up-and coming scientist. Well done!

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Alexander Hoischen

@ahoischen

5 months

So exciting to welcome so many rare disease enthusiasts in Nijmegen. @radboudumc @GeneticNijmegen @WendyStams @LisenkaVissers @gilissenc #undiagnosedhackathon2024

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Alexander Hoischen

@ahoischen

5 years

Let the sabbatical in Lecce begin! ...let’s see how Curt Stern’s thoughts on mosaicism can inspire my grant writing. #beautifulpuglia #ERC #weRallMOSAICS #willImanagetotryallrestaurnatsin7weeks

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Alexander Hoischen

@ahoischen

2 years

Today: Celebrating 50 years of our department @GeneticNijmegen @radboudumc and 40 years of the clinical genetics department @MaastrichtUMC ! Honored to work with so many greats colleagues for >15 years already.

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Alexander Hoischen

@ahoischen

4 months

It’s a wrap! The wonderful SPC has done its magic again - ⁦ @eshgsociety ⁩ ⁦ @eshg_young ⁩ have a great program for #eshg2025 in Milan. Many thanks to you all (on picture plus online!)…I can promise everyone: it will be worth everyone’s trip to Milan!

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Alexander Hoischen

@ahoischen

4 months

Shortly after the amazing #eshg2024 in Berlin - on my way to Vienna - to meet with our great team of experts in the SPC of @eshgsociety @eshg_young . Goal is to create another wonderful program for #eshg2025 in Milan.

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Alexander Hoischen

@ahoischen

8 months

Exciting start if the week! We are meeting with 25 European rare disease experts on-site (plus 10 online) from @Solve_RD for a long-read #solvathon . @radboudumc @GeneticNijmegen Goal is to use use the joint expertise to „solve so far undiagnosed rare diseases“!

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Alexander Hoischen

@ahoischen

4 months

And now the English press release:

Alexander Hoischen appointed as professor of Genomic Technologies for Immune-Mediated and Infecti...

20 June 2024

www.radboudumc.nl

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Alexander Hoischen

@ahoischen

6 months

Our latest preprint is out. In collaboration with Bionano we developed two new tools using OGM for repeat expansion disorders. Many thanks to all co-authors and collaborators - led by the wonderful @Bart_vd_S . @GeneticNijmegen @radboudumc

Optical genome mapping enables accurate repeat expansion testing

Short tandem repeats (STRs) are amongst the most abundant class of variations in human genomes and are meiotically and mitotically unstable which leads to expansions and contractions. STR expansions...

www.biorxiv.org

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Alexander Hoischen

@ahoischen

2 years

Celebrating the inaugural lecture of professor ⁦ @gilissenc ⁩! What a great day; and what a privilege to already work with you for >15years!

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Alexander Hoischen

@ahoischen

5 years

My personal (maybe biased) highlights of #agbt20 : Spatial and spacial genomics; long reads all the way; 100$ genome; ultra-sensitive sequencing; pipetting without pipetting; and all the informal discussions all day/night long. Thanks AGBT!

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Alexander Hoischen

@ahoischen

1 year

Thanks @genomeresearch - great honor and pleasure to guest edit with the wonderful @anaconesa @sedlazeck . Great timing - so much cool long read data, applications, discoveries at #ASHG23

Genome Research

@genomeresearch

1 year

@genomeresearch is now encouraging submissions for a Special Issue on Long-read DNA Sequencing Applications in Biology and Medicine, Guest Edited by @anaconesa , @ahoischen , and @sedlazeck #longreads #T2T #LongTREC #Hitseq #ASHG23

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Alexander Hoischen

@ahoischen

1 year

New manuscript, based on huge effort by our PhD candidate @SteyaertWouter ! He built a tool “Chameleolyzer” to better analyze homologous sequences from massive short-read exome data, validated by long-read sequencing.

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Alexander Hoischen

@ahoischen

2 years

Looking forward to the 35th edition of our Bertinoro course “Clinical genomics & NGS”. Registration is now open! @eshgsociety @eshg_young

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Alexander Hoischen

@ahoischen

2 years

Good morning #AGBT23 ! Great to be back - guess it’s my 13th edition. Thanks for welcoming the Dutchies with clouds and wind ;-)

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Alexander Hoischen

@ahoischen

3 years

@MantereTuomo is wonderful. He did great work with us in Nijmegen - and was in fact essential for our setup of OGM. Great to see him thrive as „mister OGM Finland“. And the clinical collocations of the Oulu team are amazing!

Bionano

@bionano

3 years

Ready to join the conversation on #SolidTumors at Symposium? Dr. @MantereTuomo , from University of Oulu, Finland, will discuss optical genome mapping (OGM) in unexplained high-risk breast cancer families. Join us for this free event! #Genomics #Cancer

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Alexander Hoischen

@ahoischen

2 years

So nice to have our alumni back in Nijmegen! Welcome back Peer and Tuomo. We missed you - but are happy you’re thriving at other parts of the world!

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Alexander Hoischen

@ahoischen

4 years

What an amazing experience. #ESHG2020 true pioneering effort: probably the largest virtual genetics meeting to date, with more than 5500 participants. Awesome science; and surprising amount of interaction via chats, tweets, mails. Now the “cheery on the cake”.

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Alexander Hoischen

@ahoischen

1 year

On @my way to Glasgow! Looking forward meeting old and new friends, colleagues and collaborators #eshg2023 . …here my very subjective must sees at day1 (Saturday at ESHG)!

ESHG 2023 Saturday Daily Highlights

null

www.youtube.com

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Alexander Hoischen

@ahoischen

4 months

Also just out - our first demonstration of the use of @pacbio long-read RNA-sequencing (IsoSeq). Particularly useful for human immune cells - w/ & w/o in vitro perturbations by pathogen exposure. So much biology to learn for human pathogen response.

Multi-omic profiling of pathogen-stimulated primary immune cells

Immunology; Proteomics; Transcriptomics

www.cell.com

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Alexander Hoischen

@ahoischen

5 years

Homemade pickles...the delicious (&healthy) side of self-isolation

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Alexander Hoischen

@ahoischen

3 years

Nice opportunity - submit your work in „optical genome mapping for hematological malignancies“ to this special issue - I have the pleasure to guest-edit with Adam Smith and Gordana Raca!

Optical Genome Mapping in Hematological Malignancies

Special Issue in journal Cancers: Optical Genome Mapping in Hematological Malignancies

www.mdpi.com

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Alexander Hoischen

@ahoischen

8 months

And we are live for another @Solve_RD #solvathon this time multi-omics data to solve undiagnosed rare disease patients. Over the last 5 years >4,700 samples have been collected! #WGS #LongReadGenomes #RNAseq #OpticalGenomeMapping #LongReadRNA #metabolomes #DeepExomes @cnag_eu

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Alexander Hoischen

@ahoischen

1 year

Sounds almost like magic (impossible to image few years ago)-we can now isolate UHMW DNA in an automated fashion #ashg23 -see poster today for details: Automated ultra-high molecular weight DNA isolation from various sources enables high-throughput optical genome mapping. [PB3162]

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Alexander Hoischen

@ahoischen

1 year

On my way to Oulo, Finland to give a seminar on “Solving the unsolved rare diseases” - @Solve_RD reanalysis effort, as well as long-read sequencing @PacBio and optical genome mapping @bionanogenomics . Also: reunion with the wonderful @MantereTuomo , great to meet him & colleagues!

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Alexander Hoischen

@ahoischen

4 years

#eshg2020 is about to start in 1h! I will miss to meet all friends and colleagues in person in Berlin; but looking forward to a lot of virtual interaction; great talks and wonderful posters! My entire lab shall attend online as well as >50 colleagues @GeneticNijmegen @radboudumc

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Alexander Hoischen

@ahoischen

3 years

Thanks for the support and collaboration everyone @PacBio . Much more to discover!

PacBio

@PacBio

3 years

We look forward to seeing what @radboudumc can accomplish with their addition of 2 new #PacBio Sequel IIe Systems. Their work with our #SMRTsequencing is crucial in identifying hidden variants that cause #rarediseases . Learn more here: 📸: @ahoischen

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Alexander Hoischen

@ahoischen

4 years

Who wants to join our Nijmegen team as a postdoc @GeneticNijmegen @radboudumc ? Co-supervision by multiple PIs with strong focus on genetics of blindness & genomic technologies. Apply directly or DM if you have questions:

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Alexander Hoischen

@ahoischen

1 year

Thanks #ashg23 - I had a blast! Excellent mix of great science, networking, business meetings and fun of course. Will be back - but also hope to see many of you at @eshgsociety @eshg_young @juhumgen #ESHG24 - we expect record participation in buzzing Berlin!

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Alexander Hoischen

@ahoischen

2 years

Congrats to all poster and presentation price winners! Europe‘s human genetics future is bright! #ESHG2022

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Alexander Hoischen

@ahoischen

3 years

For you, for me, for each other! Got my first vaccination today - many thanks to the amazing team of @radboudumc - and many thanks for all scientists that made this happen. Amazing global health science effort we all benefit from.

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Alexander Hoischen

@ahoischen

5 years

DNA art in Nijmegen! @radboudumc #nijmegen #DNA

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Alexander Hoischen

@ahoischen

2 years

I may be biased - but Martin Mensah’s discovery is truly amazing. And the talk delivery at #GfH2023 is stunningly good. This paper -team effort of several amazing teams involved -sets the start of a new paradigm for several (rare) disease: “phaseopathies”

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Nature - Frameshift mutations that create arginine-rich basic tails in transcription factors and other proteins can lead to altered phase separation in the nucleolus, which in turn leads to...

www.nature.com

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Alexander Hoischen

@ahoischen

2 years

#GfH2023 first session major success - on the way to Kassel you can find the so called “sausage heaven”. Truly artisanal way of making “Ahle Wurscht” since generations! Thanks for the great tour @wurstehimmel

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Alexander Hoischen

@ahoischen

3 years

For the first time in Europe hundreds of rare disease experts team up in @Solve_RD to actively share and jointly analyse existing data from unsolved rare disease patients.

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Alexander Hoischen

@ahoischen

5 months

Getting up early - but all worth to the get the train from Nijmegen to Berlin for #eshg2024 ! So much looking forward to this record-breaking @eshgsociety event!

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Alexander Hoischen

@ahoischen

1 year

Arrived at #ASHG23 ! First I thought there was a long queue already for the poster session, but turned out to just be 2.5h wait at passport control…would have been an all time record for genetics posters I suppose ;-). Looking forward 4 days of great science and innovation!

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Alexander Hoischen

@ahoischen

2 years

On my way to Paris! Invited by the outstanding @anne_puel to speak about our long-read genomics efforts for rare diseases. Looking forward to a great program on Monday and Tuesday:

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Alexander Hoischen

@ahoischen

1 year

Nice coverage of our @PacBio “HiFi Solves Consortium” and interview after my CoLab presentation on clinical research for highly homologous genes using paraphase by @MikeEberle and team #ashg23 . Thanks @GenomeWeb

New Consortium Aims to Demonstrate Strengths of PacBio Revio Platform for Genetic Disease Research

HiFi Solves brings together researchers from 15 institutions across 11 countries to study the value of HiFi sequencing in clinical research applications.

www.genomeweb.com

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Alexander Hoischen

@ahoischen

4 months

So greatful for your support @ChanZuckerberg - a wonderful event and a great community! Together we can make a difference!

Chan Zuckerberg Initiative

@ChanZuckerberg

4 months

We’re so thankful for the 120+ people worldwide who participated in the #UndiagnosedHackathon2024 . @WilhelmFound launched this event to help solve undiagnosed #RareDisease through collaboration & accelerated patient-centered problem-solving. More:

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Alexander Hoischen

@ahoischen

5 months

And now on stage the “queen of gnomAD” - the wonderful @ksamocha #ESHG2024

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Alexander Hoischen

@ahoischen

2 years

Getting ready for the #agbt23 pre-symposium @bionanogenomics . Come see our work on “cytogenetics on steroids”. Important momentum for clinical innovation and rare disease research.

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Alexander Hoischen

@ahoischen

6 months

Day2 #bertinoro2024 about to start!

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Alexander Hoischen

@ahoischen

2 years

And another great talk on power of long-reads for systematic inversion detection by Jan Korbel #GfH2023 — due to technical limitions we may have missed how frequent inversions are!

Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders

Large-scale analysis of haplotype-resolved inversions in human genomes unveils recurrent inversion polymorphisms and their disease relevance.

www.cell.com

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Alexander Hoischen

@ahoischen

1 year

Opening session started #ESHG2023 . Our great SPC leader Alex Reymond highlights a new @eshgsociety initiative that was started @ICHG2023 - free lecture for our African colleagues!

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Alexander Hoischen

@ahoischen

2 years

Good bye #ichg2023 - thanks a lot. What a blast. Loved all about this: Capetown itself - amazing food and wines. The science - particular the junior talents! And most of all the global collaborative attitude of so many. The future is bright. CU soon. Dankie; ngiyabonga; enkosi!

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Alexander Hoischen

@ahoischen

3 years

Both illustrate that optical genome mapping (OGM) harbors the potential to replace standard-of-care cytogenetic methods (i.e. karyotyping, FISH and CNV-microarrays). (2/n)

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Alexander Hoischen

@ahoischen

4 months

And one other manuscript went online recently - full protocol for “Optical Genome Mapping for Applications in Repeat Expansion Disorders”.

Optical Genome Mapping for Applications in Repeat Expansion Disorders

Short tandem repeat (STR) expansions are associated with more than 60 genetic disorders. The size and stability of these expansions correlate with the severity and age of onset of the disease....

currentprotocols.onlinelibrary.wiley.com

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Alexander Hoischen

@ahoischen

2 years

Great talk by my wonderful colleague @RMdeVoer #GfH2023 - about the power of long-read sequencing to identify hidden/non-coding mutations in rare diseases (here cancer risk/Lynch syndrome).

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Alexander Hoischen

@ahoischen

9 months

One of my personal all time highlights in my 15year @agbt history. Getting “AGBT knighted” by the one and only @joebeechem @nanostringtech with THE original Tshirt. Genomic-nerds #1 collectors item. Thanks king Joe! #AGBT24

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Alexander Hoischen

@ahoischen

6 months

Excited to even give two presentations and talk about two of my favorite topics 1.) Clinical Applications of Long-Read Sequencing 2.) Optical Genome Mapping - next generation cytogenetics #isv2024

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Alexander Hoischen

@ahoischen

10 months

Very happy to see the framework manuscript of our consortium published! Many thanks to all collaborators and OGM pioneers - especially Adam Smith for his leadership.

A framework for the clinical implementation of optical genome mapping in hematologic malignancies

Optical Genome Mapping (OGM) is rapidly emerging as an exciting cytogenomic technology both for research and clinical purposes. In the last 2 years alone, multiple studies have demonstrated that OGM...

onlinelibrary.wiley.com

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Alexander Hoischen

@ahoischen

5 months

Now in the overpacked long read session #eshg2024 our very own @GeneticNijmegen @radboudumc @LisenkaVissers

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Alexander Hoischen

@ahoischen

2 years

…and his Science fanbase also arrived

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Alexander Hoischen

@ahoischen

3 years

Honored & excited to speak today about our discovery of TLR7 deficiency as a risk factor for severe COVID19 in men #jointmeeting2022 @clingensoc @BritSocGenMed @erfelijk_artsen

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Alexander Hoischen

@ahoischen

6 months

Day 1 #bertinoro2024 kicked off by a legend in our field @Ddysmo . She has educated a generation of amazing scientists and clinicians in Manchester - and her books are mandatory reads for everyone in genetics.

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Alexander Hoischen

@ahoischen

3 years

Nice new demonstration of long-read technologies to identify hidden structural variants:

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

In a family with X-linked choroideremia, aberrant splicing of the gene CHM was detected previously, but the underlying genomic defect remained elusive. Long-read technologies revealed an inverted...

www.cell.com

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Alexander Hoischen

@ahoischen

5 years

Getting ready for @eshg2019 in beautiful Gothenburg - what a great weather! Thanks @lexogen for the @AGBT gift ;-)

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Alexander Hoischen

@ahoischen

5 months

Great session starting: C03-Structural Variants #ESHG2024 ! Proud off our postdocs @lydiasagath and @Bart_vd_S presenting here. First long-read sequencing data and optical genome mapping data of our @Solve_RD project will be presented!

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Alexander Hoischen

@ahoischen

5 years

Getting ready for our first virtual departmental happy hour. Six papers to celebrate by many great colleagues! Amongst which great work by Viola and my PhD student Rosanne @c_deuren #dontforgettogoodthingsinthesechallengingtimes

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Alexander Hoischen

@ahoischen

5 months

Great workshop ahead: W08 - mutations we almost missed. Conceived and chaired by @gilissenc Can Ding #ESHG2024 . I will share my enthusiasm for long-read technologies…that helped finding (almost) missed variants.

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Alexander Hoischen

@ahoischen

1 year

Good morning #ashg23 . That was a great first day. Pleasure to speak today about: Exploring the potential clinical utility of HiFi sequencing for homologous loci (pseudogenes). 10.10am CoLab #1

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