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Article

Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2018

Zlotogora Joël, Patrinos George P, Meiner Vardiella

Abstract excerpt

PURPOSE: The aim of the study was to compare the data for mutations related to clinical disorders reported among Ashkenazi Jewish patients in the Israeli National Genetic Database (INGD) with variants included in the Genome Aggregation Database (gnomAD). METHODS: We extracted data for mutations claimed to cause disorders reported among Ashkenazi Jews from the INGD and searched gnomAD for each of them. We compared...

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PMID: 29144512
DOI: 10.1038/gim.2017.193

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