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Article

DNA pooling in mutation detection with reference to sequence analysis.

American journal of human genetics - 1 May 2000

Amos C I, Frazier M L, Wang W

Abstract excerpt

We discuss pooling methods of mutation detection for identifying rare mutations. We provide mathematical formulae for obtaining the optimal pool size as a function of the mutation frequency in the study population and the specificity of the test. The optimal pool size depends strongly on the specificity of the test. With a test that has 99% specificity, pooling can reduce the number of tests that need to be...

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Identifiers

PMID: 10733464
DOI: 10.1086/302894
PMCID: PMC1378002

Genes

STK11

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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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