Alumni
This person is a member of Sanger Institute Alumni.
After approximately four and a half years as a postdoctoral fellow, I am leaving the Wellcome Sanger Institute on 19 August 2021 to start an independent research group at Massachusetts General Hospital in Boston.
Kaitlin was a postdoctoral fellow involved with both the Deciphering Developmental Disorders (DDD) and DECIPHER projects.
Her work is focused on studying and understanding the patterns of rare variation that contribute to disease.
Quick links
My publications
Connect with me on Twitter
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🎉Final version of our dosage sensitivity study out today @CellCellPress!
https://www.cell.com/cell/fulltext/S0092-8674(22)00788-7
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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New preprint from #DDD on the diagnostic approaches + rates. I love the deep dive, particularly into the factors influencing likelihood of getting a diagnosis. 10 years+ of work nicely put together by @carolinefwright.
It was great to be part of this project!
Mega-DDD diagnostics preprint! Iterative variant detection, annotation, filtering and interpretation, plus analysis of factors affecting chance of being diagnosed. Big thank you to clinicians, scientists and thousands of families - it's been a privilege. https://www.medrxiv.org/content/10.1101/2022.07.25.22278008v1
Exome-seq has catalyzed rare variant (RV) discovery.
But unknown:
RVs converge w/ common variants?
As polygenic+pleiotropic?
Improve population PRS+"missing heritability"?
New method + answers to these q's, leveraging 400,000 UKB exomes:
https://www.medrxiv.org/content/10.1101/2022.07.06.22277335v1
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