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Article

A universal carrier test for the long tail of Mendelian disease.

Reproductive biomedicine online - 1 Oct 2010

Srinivasan Balaji S, Evans Eric A, Flannick Jason, Patterson A Scott, Chang Christopher C, Pham Tuan, Young Sharon, Kaushal Amit, Lee James, Jacobson Jessica L, Patrizio Pasquale

Abstract excerpt

Mendelian disorders are individually rare but collectively common, forming a 'long tail' of genetic disease. A single highly accurate assay for this long tail would allow the scaling up of the Jewish community's successful campaign of population screening for Tay-Sachs disease to the general population, thereby improving millions of lives, greatly benefiting minority health and saving billions of dollars. This...

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PMID: 20729146
DOI: 10.1016/j.rbmo.2010.05.012

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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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