Kaitlin Samocha (@ksamocha) / X

Kaitlin Samocha

5,447 posts

Kaitlin Samocha

@ksamocha

Assistant Investigator @CGM_MGH. Focus on human genomics and modeling rare variation. She/her. You can find me on the other place with the same name.

Joined August 2014

Pinned
Kaitlin Samocha
@ksamocha
Dec 6, 2023
Our paper describing a way to infer the phase of rare variant pairs using gnomAD v2 is out now in Nature Genetics. We hope that the resource we generated will be useful when interpreting rare co-occurring variants in the context of recessive disease. nature.com/articles/s4158…
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Kaitlin Samocha
@ksamocha
Jul 16, 2021
I am excited to announce that I will be starting my lab @CGM_MGH @harvardmed this autumn! It is an honor to return to MGH, and I am thrilled to join them and the incredible scientific community across the Boston/Cambridge area.
Kaitlin Samocha
@ksamocha
Oct 14, 2020
Our study of de novo mutations in ~31,000 patients with developmental disorders is now published! Combining research and healthcare-generated genetic data gave us power to identify newly associated genes -> eventual diagnoses. nature.com/articles/s4158…
Kaitlin Samocha
@ksamocha
Oct 16, 2019
Our work studying de novo mutations in ~31k trios with a developmental disorder is now out on #bioRxiv! This preprint was enabled by collaboration between the #DDD Study, @GeneDx, and Radboud University Medical Center. biorxiv.org/content/10.110… #ASHG19
biorxiv.org
Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental...
De novo mutations (DNMs) in protein-coding genes are a well-established cause of developmental disorders (DD). However, known DD-associated genes only account for a minority of the observed excess of...
Kaitlin Samocha
@ksamocha
Mar 18, 2024
A bit belated, but I am thrilled to receive the notice of award for my lab's first R01 from the @genome_gov!! I'm extremely thankful for their early career support, and for the many mentors, co-Is, letter writers, and team members who contributed. Excited to get into the work!
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Kaitlin Samocha
@ksamocha
Mar 23, 2023
Determining the phase of two variants is a key part of recessive diagnoses, but is challenging to do with short-read sequencing data and often requires parental data. We used gnomAD to aid in phasing, and explored compound heterozygosity in these data 1/
biorxiv.org
Inferring compound heterozygosity from large-scale exome sequencing data
Severe recessive diseases arise when both the maternal and the paternal copies of a gene carry, or are impacted by, a damaging genetic variant in the affected individual. When a patient carries two...
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Kaitlin Samocha
@ksamocha
Apr 22, 2022
I'm hiring postdocs to join my team at @CGM_MGH & Broad! We study patterns of rare variation in large genomic datasets (like gnomAD), and leverage those into insights about genetic risk for disease. If you are interested, please reach out or apply here: partners.taleo.net/careersection/…
Kaitlin Samocha
@ksamocha
Apr 18, 2024
Recently out on #bioRxiv: our updated approach to identify regional variability in missense mutation intolerance (“constraint”) in protein-coding genes using the gnomAD database (@gnomad_project). 1/n
biorxiv.org
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
Missense variants can have a range of functional impacts depending on factors such as the specific amino acid substitution and location within the gene. To interpret their deleteriousness, studies...
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Kaitlin Samocha
@ksamocha
Nov 1, 2023
It's here~! Just in time for #ASHG23. gnomAD v4: publicly available data from >800k sequenced individuals on GRCh38.
Genome Aggregation Database
@gnomad_project
Nov 1, 2023
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)
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Kaitlin Samocha
@ksamocha
Mar 15, 2023
New feature on gnomAD! For pairs of rare variants, we predicted the number of individuals in gnomAD with these variants in cis and in trans, split by allele frequency and predicted consequence. We have a blog post to describe this, but watch this space! 👀 Preprint coming soon.
Genome Aggregation Database
@gnomad_project
Mar 15, 2023
The #gnomAD browser now includes variant co-occurrence counts by gene. We hope this will help with interpretation of co-occurring variants in the context of recessive conditions. Read more about this feature on our blog post broad.io/gnomAD_co_occu… #ACMGMtg23
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Kaitlin Samocha
@ksamocha
Nov 3, 2023
Constraint scores are now up for gnomAD v4!
Genome Aggregation Database
@gnomad_project
Nov 3, 2023
Gene constraint is now available on #gnomAD v4! This is the first time we have had constraint data available on GRCh38. Katherine Chao will be covering this work during her talk at #ASHG23 tomorrow (11/4) at 11am in rm 202A.
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Kaitlin Samocha
@ksamocha
Nov 13, 2023
Now that the dust has settled on the gnomAD v4 release, which hopefully many of you have already checked out, I wanted to take this week to thank many of the members of the team who made this possible. First up this week is the amazing production team. 1/7
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Kaitlin Samocha
@ksamocha
Jun 1, 2024
.@konradjk #eshg2024: Biobanks allow us to do "all by all" analyses, where you test the millions of genetic variants against thousands of phenotypes. Points to work with UK Biobank, specifically Pan-UKB (pan.ukbb.broadinstitute.org) and Genebass (app.genebass.org).
pan.ukbb.broadinstitute.org
Pan UKBB | Pan UKBB
Description will go into a meta tag in
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Kaitlin Samocha
@ksamocha
Mar 3, 2022
I would like to thank Girl Scout cookies and Beyoncé for their support while writing this grant.