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Article

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

PloS one - 1 Jan 2016

Fujikura Kohei

Abstract excerpt

Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but it is challenging to find reliable epidemiological values for rare disorders. Here, I provide a genetic epidemiology method to identify the causative mutations behind rare, inherited disorders using two population exome sequences (1000 Genomes and NHLBI). I created global maps of carrier rate distribution for 18...

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Share to Exome
Share to Anemia, Sickle Cell
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27219052
DOI: 10.1371/journal.pone.0155552
PMCID: PMC4878778

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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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