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Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.

Human mutation - 1 Sept 2013

Cassa Christopher A, Tong Mark Y, Jordan Daniel M

Abstract excerpt

It is now affordable to order clinically interpreted whole-genome sequence reports from clinical laboratories. One major component of these reports is derived from the knowledge base of previously identified pathogenic variants, including research articles, locus-specific, and other databases. While over 150,000 such pathogenic variants have been identified, many of these were originally discovered in small...

Topics

Databases, Genetic
Gene Frequency
Genetic Variation
Genome, Human
Genotype
Heterozygote
Homozygote
Humans
Incidental Findings
Penetrance
Sequence Analysis, DNA

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PMID: 23818451
DOI: 10.1002/humu.22375
PMCID: PMC3786140

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MAF

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