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Article

Genome-scale sequencing to identify genes involved in Mendelian disorders.

Current protocols in human genetics - 18 Oct 2013

Markello Thomas C, Adams David R

Abstract excerpt

The analysis of genome-scale sequence data can be defined as the interrogation of a complete set of genetic instructions in a search for individual loci that produce or contribute to a pathological state. Bioinformatic analysis of sequence data requires sufficient discriminant power to find this needle in a haystack. Current approaches make choices about selectivity and specificity thresholds, and the quality,...

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Identifiers

PMID: 24510651
DOI: 10.1002/0471142905.hg0613s79
PMCID: PMC3959778

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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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