Sarah Howles
@sarahhowles.bsky.social
180 followers
740 following
6 posts
Academic urologist trying to understand kidney stones. University of Oxford
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Sarah Howles
@sarahhowles.bsky.social
· Feb 26
Rare disease gene association discovery in the 100,000 Genomes Project - Nature
A rare variant burden analytical framework for Mendelian diseases was developed and applied to data from the 100,000 Genomes Project, identifying 69 probable new disease–gene associations.
www.nature.com
Reposted by Sarah Howles
Sarah Howles
@sarahhowles.bsky.social
· Dec 9
Sarah Howles
@sarahhowles.bsky.social
· Dec 8
Sarah Howles
@sarahhowles.bsky.social
· Dec 8
Sarah Howles
@sarahhowles.bsky.social
· Dec 8
Reposted by Sarah Howles