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Article

Design considerations for massively parallel sequencing studies of complex human disease.

PloS one - 1 Jan 2011

Feng Bing-Jian, Tavtigian Sean V, Southey Melissa C, Goldgar David E

Abstract excerpt

Massively Parallel Sequencing (MPS) allows sequencing of entire exomes and genomes to now be done at reasonable cost, and its utility for identifying genes responsible for rare Mendelian disorders has been demonstrated. However, for a complex disease, study designs need to accommodate substantial degrees of locus, allelic, and phenotypic heterogeneity, as well as complex relationships between genotype and...

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Identifiers

PMID: 21850262
DOI: 10.1371/journal.pone.0023221
PMCID: PMC3151293

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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