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

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....

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Bibliografiske detaljer
Udgivet i:PLoS One
Main Authors: Eboreime, Jordan, Choi, Soo-Kung, Yoon, Song-Ro, Arnheim, Norman, Calabrese, Peter
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4920415/
https://ncbi.nlm.nih.gov/pubmed/27341568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0158340
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