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Article

VARPRISM: incorporating variant prioritization in tests of de novo mutation association.

Genome medicine - 25 Aug 2016

Hu Hao, Coon Hilary, Li Man, Yandell Mark, Huff Chad D

Abstract excerpt

BACKGROUND: Patients with certain genetic diseases, such as autism spectrum disorder, have increased rates of de novo mutations within some protein-coding genes. RESULTS: We introduce the VARiant PRIoritization SuM (VARPRISM), a software package which incorporates functional variant prioritization information to improve the power to detect de novo mutations influencing disease risk. VARPRISM evaluates the...

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Identifiers

PMID: 27562213
DOI: 10.1186/s13073-016-0341-9
PMCID: PMC4997702

Genes

DLX3
KCND3
PDCD1
TSPAN4

Provenance

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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