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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....
Autores principales: | Eboreime, Jordan, Choi, Soo-Kung, Yoon, Song-Ro, Arnheim, Norman, Calabrese, Peter |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920415/ https://www.ncbi.nlm.nih.gov/pubmed/27341568 http://dx.doi.org/10.1371/journal.pone.0158340 |
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