Talkowski Lab

Understanding the consequences of genomic variation in human disease.

[Talkowski Lab @TalkowskiLab]

Philip's paper on SMC3 mutations in HGG Advances won the #ASHG2024 award!! 🎉
https://t.co/pTcpP9i0eF

[Talkowski Lab @TalkowskiLab]

Congrats @Philip_M_Boone on receiving the ASHG Award for Outstanding Early Career Publication! He's a clinical geneticist and Instructor in my lab studying the impact of mutations in cohesin complex genes on genome organization and a cluster of syndromes known as cohesinopathies

[Talkowski Lab @TalkowskiLab]

@aaronquinlan presenting great science as always on elevated mutation rates in male sperm and implications for infertility. Nice to see 'Chair' now in his title. So well deserved and inspired choice by U Utah Genetics.

[AGBT Meeting @agbt]

Day 2 at @AGBT Precision Health 2024 brings another group of incredible speakers including Kyle Farh from @illumina, @aaronquinlan from @UofUGenetics and @ontowonka from @CUSystem. See you there! #AGBTPH

[Talkowski Lab @TalkowskiLab]

#AGBTPH Kyle Fahr and team @illumina continuing to advance AI methods for variant interpretation - compelling data moving from missense and splice site variants to the challenge of the noncoding genome. Great talk!!

[AGBT Meeting @agbt]

Day 2 at @AGBT Precision Health 2024 brings another group of incredible speakers including Kyle Farh from @illumina, @aaronquinlan from @UofUGenetics and @ontowonka from @CUSystem. See you there! #AGBTPH

[Talkowski Lab @TalkowskiLab]

Thanks to all the opening session speakers, the #AGBTPH organizing committee, my co-chairs @NHGRI_Director and @WendyKChung, and as always the #AGBT team for welcoming us to Denver. Looking forward to the rest of the week!!

[Talkowski Lab @TalkowskiLab]

Fantastic start to #AGBTPH. Perfect lineup of Nancy Cox on heritability of lab values and biomarker studies, @jorsmo on remarkable progress in neuropsychiatric genetics and suicide prevention, @EimearEKenny fabulous studies of diversity in BioMe, and abstract speaker @LimdiNita.

[AGBT Meeting @agbt]

START ME UP! Co-Chairs @NHGRI_Director from @genome_gov and Mike Talkowski from
@MassGeneralNews and @TalkowskiLab take the stage and kick off Day 1 at AGBT Precision Health 2024. #AGBTPH

[Talkowski Lab @TalkowskiLab]

Looking for ~1.2M structural variants across diverse populations 👀

Our latest @gnomad_project SV datasets are now released from exome and genome sequencing 🥳

If you are here at #ASHG23 the great @JFuBiostats will give a talk today (11/2) at 1:45pm in Rm. 202A.

[Genome Aggregation Database @gnomad_project]

As part of #gnomAD v4, in collaboration with the @TalkowskiLab, we have released 1,199,117 genome SVs and 66,903 rare exome CNVs. These data represent the first gnomAD SV dataset released native to the GRCh38 reference genome. (1/2)

[Talkowski Lab @TalkowskiLab]

A perfect choice for the @GeneticsSociety Leadership Award. Congrats @NancyGenetics!! #ASHG23

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

Huge congrats to @NancyGenetics who received the @GeneticsSociety Leadership Award. So well deserved!!

[Talkowski Lab @TalkowskiLab]

The new @gnomad_project release is finally here - well ahead of ASHG👏🎉

It has been a monumental effort from to bring this resource to the field. More to come on structural variants later but for now - huge congrats and thank you to all members of the amazing gnomAD team!!

[Genome Aggregation Database @gnomad_project]

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry https://t.co/YKXIFlZwSi #ASHG23 (1/11)

[Talkowski Lab @TalkowskiLab]

@NHGRI_Director @UMassChan My deepest sympathy Eric. Thank you for sharing his story with us. What a gift to have had his influence in your life. All my best to your family.

[CGM at MGB @CGM_MGH]

Happy to announce this year's call for applications supporting our postdoc fellows for the NHGRI-funded MGB T32 Training Program in Precision and Genomic Medicine. https://t.co/IyqDMMioqQ

[CGM at MGB @CGM_MGH]

Announcing a new @CGM_MGH faculty search in the area of Psychiatric Genomics and Epidemiology! The new faculty member will be appointed in @MGHPsychiatry and partner with the @StanleyCenter at @broadinstitute
Apply here: https://t.co/zb0fneYQDh

[CGM at MGB @CGM_MGH]

Many thanks to the entire CGM community and amazing organizers @GrishchukL, Alysa Doyle, @professorsoukas and Piper McCabe for a fantastic day of science, activities, and social interactions at our annual retreat!

[Talkowski Lab @TalkowskiLab]

@anshulkundaje I have never heard a compelling reason why funds that could be used for trainees & experiments should go to journal OA fees when preprint & PMC (last version) are already OA.

Funders just need to accept preprint/PMC as satisfying OA req (bonus 👉 more incentive to preprint ).

[Talkowski Lab @TalkowskiLab]

Huge thanks to all GCs and special thanks to our amazing gnomAD scientific operations manager and council member @sambaxtercgc. #gcad2022

[Genome Aggregation Database @gnomad_project]

Today is Genetic Counselor Awareness Day and gnomAD would like to recognize all the genetic counselors around the world working in clinics, labs, research, education and beyond. A special thank you to all our GC users and team members! #genechat #GCAD2022

[CGM at MGB @CGM_MGH]

The CGM proudly supports all of our Genetic Counselors today on #GeneticCounsellorAwarenessDay!!

The day is dedicated to raising awareness and interest about GCs and helping the public understand the critical role that they play in healthcare #GCAD2022

[Kaitlin Samocha @ksamocha]

MT for Rachita Yadav (@RYbioinfo) #ASHG22: Causal mechanism was alternative splicing of exon 32 + intron retention. TAF1 expression was reduced in patients, but not by much. TAF1 is very constrained so males really cannot tolerate losing their copy.

[Heidi Rehm @HeidiRehm]

OK folks, it’s time to start looking at the non-coding portion of the genome! We hope you’ll make use of our newest addition to the @gnomad_project browser - genomic constraint across the entire genome. Special thanks to Siwei @sc2643 and many other members of the gnomAD team!

[Talkowski Lab @TalkowskiLab]

@dalygene Welcome home Mark!!

Also congrats to everyone involved on the progress at FIMM. We are excited to see its next chapter.

[Talkowski Lab @TalkowskiLab]

First ASHG talk for Lily Wang - what an awesome experience for a grad student. Congrats Lily and @ksamocha on the fabulous work!! #ASHG22

[Kaitlin Samocha @ksamocha]

Super proud of Lily on a great ASHG talk!!! Handling all these questions like a champion. #ASHG22