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Quantitative group testing-based overlapping pool sequencing to identify rare variant carriers

BACKGROUND: Genome-wide association studies have revealed that rare variants are responsible for a large portion of the heritability of some complex human diseases. This highlights the increasing importance of detecting and screening for rare variants. Although the massively parallel sequencing tech...

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Publicat a:BMC Bioinformatics
Autors principals: Cao, Chang-Chang, Li, Cheng, Sun, Xiao
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4229885/
https://ncbi.nlm.nih.gov/pubmed/24934981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-195
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