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Talkowski Lab

@TalkowskiLab

Understanding the consequences of genomic variation in human disease.
Boston, MA talkowski.mgh.harvard.edu Joined January 2017
138 Following 1.1K Followers 119 Posts

Latest posts 5

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 - Advances in Genome Biology and Technology @agbt Sep 5, 2024
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
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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 - Advances in Genome Biology and Technology @agbt Sep 5, 2024
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
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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 - Advances in Genome Biology and Technology @agbt Sep 4, 2024
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
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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 Nov 2, 2023
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)
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