ClinVar P/LP variants with allele frequencies exceeding 1/200 within seven founder populations in NYC.

<p>ClinVar P/LP variants with allele frequencies exceeding 1/200 within seven founder populations in NYC.</p>

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Bibliographic Details
Main Author:	Mariko Isshiki (6162992) (author)
Other Authors:	Anthony J. Griffen (21594717) (author), Paul Meissner (4008797) (author), Paulette Spencer (6059399) (author), Michael D. Cabana (7923209) (author), Susan D. Klugman (21594720) (author), Mirtha Colón (21594723) (author), Zoya Maksumova (21594726) (author), Shakira Suglia (10323571) (author), Carmen R. Isasi (7246739) (author), John M. Greally (9350936) (author), Srilakshmi M. Raj (15119941) (author)
Published:	2025
Subjects:	Evolutionary Biology Ecology Cancer Science Policy Environmental Sciences not elsewhere classified Biological Sciences not elsewhere classified us research program population structure studies mount sinai bio medical genomics research help improve delivery genetic disease risks damaging variants identified damaging variants across seven founder populations associated rare disease mostly communities currently identified 16 groups health care benefit group identified 201 div >< p founder pathogenic variants represented founder populations founder populations health care confirmed disease founder groups previously associated likely pathogenic clinvar pathogenic puerto rican provide insights potential source never previously increased prevalence increased inter increased frequencies ibd ), high frequency genomic segments genomic data enrichment analysis defined 7 ashkenazi jewish 366 residents
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