Skip To Main Content
Barış Kayaalp on Muck Rack

Barış Kayaalp

As seen in: Nature
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile

Get in touch with Barış

Contact Barış, search articles and posts on X, monitor coverage, and track replies from one place.

Learn more about Muck Rack

Actions

Share this page

Is this you?

As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile

Articles

Inherited burden for disease predisposition in diverse populations - npj Genomic Medicine

|
By Barış Kayaalp, Meltem Ece Kars, Yuval Itan, Ayse Basak, Jean-Laurent Casanova Verified, Tayfun Özçelik
| Nature Verified
Abstract We leveraged allele frequencies from gnomAD, Regeneron Genetics Center Million Exome and Turkish Variome for 4591 disease genes from PanelApp and OMIM, and identified 97,135 pathogenic and 478,263 likely pathogenic variants using an American College of Medical Genetics and Genomics-based classifier. This expanded pathogenic and likely pathogenic variants nearly six-fold.
Open in Who Shared Issue with article?
See all 1 articles