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Article

The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Genetics research - 14 Sept 2015

Shen Tony, Lee Ariel, Shen Carol, Lin C Jimmy

Abstract excerpt

There are an estimated 6000-8000 rare Mendelian diseases that collectively affect 30 million individuals in the United States. The low incidence and prevalence of these diseases present significant challenges to improving diagnostics and treatments. Next-generation sequencing (NGS) technologies have revolutionized research of rare diseases. This article will first comment on the effectiveness of NGS through the...

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Identifiers

PMID: 26365496
DOI: 10.1017/S0016672315000166
PMCID: PMC6863629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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