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Article

Detecting disease-causing mutations in the human genome by haplotype matching.

American journal of human genetics - 1 Nov 2006

Spencer David H, Bubb Kerry L, Olson Maynard V

Abstract excerpt

Comparisons between haplotypes from affected patients and the human reference genome are frequently used to identify candidates for disease-causing mutations, even though these alignments are expected to reveal a high level of background neutral polymorphism. This limits the scope of genetic stud...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17033972
DOI: 10.1086/508757
PMCID: PMC1698563

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17033972-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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