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Article

Estimating the number of unseen variants in the human genome.

Proceedings of the National Academy of Sciences of the United States of America - 31 Mar 2009

Ionita-Laza Iuliana, Lange Christoph, M Laird Nan

Abstract excerpt

The different genetic variation discovery projects (The SNP Consortium, the International HapMap Project, the 1000 Genomes Project, etc.) aim to identify as much as possible of the underlying genetic variation in various human populations. The question we address in this article is how many new variants are yet to be found. This is an instance of the species problem in ecology, where the goal is to estimate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19276111
DOI: 10.1073/pnas.0807815106
PMCID: PMC2664058

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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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