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Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Strom Charles M, Crossley Beryl, Redman Joy B, Quan Franklin, Buller Arlene, McGinniss Matthew J, Sun Weimin

Abstract excerpt

PURPOSE: To determine the frequency of carriers of Ashkenazi Jewish (AJ) genetic diseases in the US population and compare these numbers with previously published frequencies reported in smaller more isolated cohorts. METHODS: A database containing more than 100,000 genotyping assays was queried. Assays for 10 separate AJ genetic diseases where comparisons were made with published data. RESULTS: As expected, we...

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PMID: 15354333
DOI: 10.1097/01.gim.0000127267.57526.d1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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