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Article

Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing.

PloS one - 1 Jan 2016

Eboreime Jordan, Choi Soo-Kung, Yoon Song-Ro, Arnheim Norman, Calabrese Peter

Abstract excerpt

We used targeted next generation deep-sequencing (Safe Sequencing System) to measure ultra-rare de novo mutation frequencies in the human male germline by attaching a unique identifier code to each target DNA molecule. Segments from three different human genes (FGFR3, MECP2 and PTPN11) were studied. Regardless of the gene segment, the particular testis donor or the 73 different testis pieces used, the frequencies...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27341568
DOI: 10.1371/journal.pone.0158340
PMCID: PMC4920415

Genes

PTPN11
FGFR3
MECP2

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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