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Article

Exhaustive prediction of disease susceptibility to coding base changes in the human genome.

BMC bioinformatics - 12 Aug 2008

Kulkarni Vinayak, Errami Mounir, Barber Robert, Garner Harold R

Abstract excerpt

BACKGROUND: Single Nucleotide Polymorphisms (SNPs) are the most abundant form of genomic variation and can cause phenotypic differences between individuals, including diseases. Bases are subject to various levels of selection pressure, reflected in their inter-species conservation. RESULTS: We propose a method that is not dependant on transcription information to score each coding base in the human genome...

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Identifiers

PMID: 18793467
DOI: 10.1186/1471-2105-9-S9-S3
PMCID: PMC2537574

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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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