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Article

Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer's disease.

BMC medical informatics and decision making - 18 May 2017

Kim Dokyoon, Basile Anna O, Bang Lisa, Horgusluoglu Emrin, Lee Seunggeun, Ritchie Marylyn D, Saykin Andrew J, Nho Kwangsik

Abstract excerpt

BACKGROUND: Rapid advancement of next generation sequencing technologies such as whole genome sequencing (WGS) has facilitated the search for genetic factors that influence disease risk in the field of human genetics. To identify rare variants associated with human diseases or traits, an efficient genome-wide binning approach is needed. In this study we developed a novel biological knowledge-based binning...

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Source

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Identifiers

PMID: 28539126
DOI: 10.1186/s12911-017-0454-0
PMCID: PMC5444041

Genes

FANCC
FAF1
GOLGA3
LYPLAL1
MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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