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.
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.
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...
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
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!
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
!
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
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!
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.
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:
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”
In 1h I’ll present unpublished data of our first ~400 HiFi Revio genomes.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
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.
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.
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.
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
📢New from
@ahoischen
& colleagues!
📰 Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
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.
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
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.
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!
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!
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.
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!
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.
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“!
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
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!
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.
@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!
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
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”.
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)!
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.
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!
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]
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!
#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
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:
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!
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.
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”
#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
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.
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!
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!
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:
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
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:
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.
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!
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!
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!
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)
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).
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
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
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.
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.
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!
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.
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