Understanding the consequences of genomic variation in human disease.
Boston, MA
Joined January 2017
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Philip's paper on SMC3 mutations in HGG Advances won the #ASHG2024 award!! 🎉
cell.com/hgg-advances/fullte…
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
@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.
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
#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!!
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
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!!
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.
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
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.
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)
Huge congrats to @NancyGenetics who received the @GeneticsSociety Leadership Award. So well deserved!!
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!!
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 broad.io/gnomad_v4 #ASHG23 (1/11)
