Understanding the consequences of genomic variation in human disease.
Boston, MA
Joined January 2017
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Talkowski Lab retweeted
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. cgm.massgeneral.org/training…
Talkowski Lab retweeted
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: redcap.partners.org/redcap/s…
Talkowski Lab retweeted
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 retweeted
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
Talkowski Lab retweeted
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.
Talkowski Lab retweeted
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!
Genomic constraint metric is now available on the #gnomAD browser. To learn more about the genomic constraint metric view the preprint on bioRxiv (biorxiv.org/content/10.1101/…) or attend @sc2643’s #ASHG22 platform presentation on 10/28 10:30am in rm 502
Talkowski Lab retweeted
Check out new paper in @AgingCell from @MGH_CGM associate director, @professorsoukas and his lab. @MGH_RI @harvardmed @HarvardNORC
Our lab's work is now out in @AgingCell doi.org/10.1111/acel.13718 by first author Armen Yerevanian, MD, showing that vitamins have complicated roles in aging: riboflavin depletion in adult life promotes longevity and metabolic hormesis!
Talkowski Lab retweeted
BREAKING NEWS:
The 2022 #NobelPrize in Physiology or Medicine has been awarded to Svante Pääbo “for his discoveries concerning the genomes of extinct hominins and human evolution.”
Talkowski Lab retweeted
Congrats to Dr Alicia Martin @genetisaur, who is instrumental in developing statistical methods and resources for multi-ethnic studies and underrepresented populations! She is the recipient of the 2022 Sklar Innovation Award. #WCPG2022 1/2
Talkowski Lab retweeted
I am thrilled to announce that @ThakurelaLab will start @MGH (Pediatrics Dep/Lurie Center for Autism) @Harvardmed in Dec 2022. Using genomics & epigenomics, we will investigate signaling-responsive variations affecting genome regulation & topology during neurodevelopment. #SSTLab
Talkowski Lab retweeted
And don't miss the associated Research Briefing!
🧠 Diverse mutations in autism-related genes and their expression in the developing brain
⬇️
go.nature.com/3PxjIQC
Talkowski Lab retweeted
📣 OUT TODAY @NatureGenet
📰 Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
🧑🤝🧑 @JFuBiostats @Sirt3 @dalygene @TalkowskiLab and team
👇🏾
go.nature.com/3pyHG32
Talkowski Lab retweeted
🎉Final version of our dosage sensitivity study out today @CellCellPress!
cell.com/cell/fulltext/S0092…
Explored CNV associations across 54 phenotypes in ~1M genomes
Since @medrxivpreprint in 2021: added 200k samples & 22 phenotypes thanks to @GeneDx @ESTbiobank @vumcdbmi
🧵👇
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Talkowski Lab retweeted
Want to make an impact on genome science for good? Share your innovations and scientific discoveries at Precision Health 2022.
Tomorrow is the last day to submit your abstract and present your research alongside industry leaders: rebrand.ly/AGBT-PH-Abstracts #AGBT22
Talkowski Lab retweeted
I’m sample(c("thrilled", "honoured", "#blessed", "proud"), 1) to announce our work on the female protective effect (FPE) in autism spectrum disorder (ASD) is out in Cell Genomics 🎉 🧵 (1/11)
cell.com/cell-genomics/fullt…
Talkowski Lab retweeted
@CGM_MGH investigator and Director for the Center for Neuroscience of Psychedelics, @neuro_mgh, featured in the resurgence of psychedelics at MGH/Harvard
harvardindependent.com/2022/…
Talkowski Lab retweeted
Very excited to share @TalkowskiLab’s latest work on neuronal CRISPR-modeling of coding and non-coding variants in MEF2C and the 5q14.3 TAD @biorxivpreprint🎉 tinyurl.com/4fp5rz8z
Talkowski Lab retweeted
Excited to announce our latest work on sequencing balanced chromosomal rearrangements (BCRs) is live @medrxivpreprint🎉!
medrxiv.org/search/Chelsea%2…
Are you interested in developmental disorders (DD), noncoding mechanisms of disease, and 3D genome architecture? If so, read 🧵👇
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Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders medrxiv.org/cgi/content/shor… #medRxiv
Talkowski Lab retweeted
Congratulations to @CGM_MGH lab head, @MGH_RI Scientific Director, and Professor of Neurology at @harvardmed @s_slaugen for being awarded the 2021 John T. Potts Jr., MD, Faculty Mentoring Award! 👏