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Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing

Motivation: The past several years have seen the development of methodologies to identify genomic variation within a fetus through the non-invasive sequencing of maternal blood plasma. These methods are based on the observation that maternal plasma contains a fraction of DNA (typically 5–15%) origin...

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Bibliografiske detaljer
Main Authors: Rampášek, Ladislav, Arbabi, Aryan, Brudno, Michael
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4058944/
https://ncbi.nlm.nih.gov/pubmed/24931986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btu292
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