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Article

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation.

Genome research - 1 May 2013

Hiatt Joseph B, Pritchard Colin C, Salipante Stephen J, O'Roak Brian J, Shendure Jay

Abstract excerpt

The detection and quantification of genetic heterogeneity in populations of cells is fundamentally important to diverse fields, ranging from microbial evolution to human cancer genetics. However, despite the cost and throughput advances associated with massively parallel sequencing, it remains challenging to reliably detect mutations that are present at a low relative abundance in a given DNA sample. Here we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23382536
DOI: 10.1101/gr.147686.112
PMCID: PMC3638140

Genes

BRAF
JAK2
KRAS
NRAS

Variants

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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