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Article

Family-Specific Variants and the Limits of Human Genetics.

Trends in molecular medicine - 1 Nov 2016

Shirts Brian H, Pritchard Colin C, Walsh Tom

Abstract excerpt

Every single-nucleotide change compatible with life is present in the human population today. Understanding these rare human variants defines an extraordinary challenge for genetics and medicine. The new clinical practice of sequencing many genes for hereditary cancer risk has illustrated the utility of clinical next-generation sequencing in adults, identifying more medically actionable variants than single-gene...

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Share to Genetic Predisposition to Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to High-Throughput Nucleotide Sequencing

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Share to Polymorphism, Single Nucleotide

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Identifiers

PMID: 27742414
DOI: 10.1016/j.molmed.2016.09.007
PMCID: PMC6197474

Provenance

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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