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Monovar: single nucleotide variant detection in single cells

Current variant callers are not suitable for single-cell DNA sequencing (SCS) as they do not account for allelic dropout, false-positive errors, and coverage non-uniformity. We developed Monovar, a novel statistical method for detecting and genotyping single nucleotide variants in SCS data. Evaluati...

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Detalles Bibliográficos
Autores principales: Zafar, Hamim, Wang, Yong, Nakhleh, Luay, Navin, Nicholas, Chen, Ken
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887298/
https://www.ncbi.nlm.nih.gov/pubmed/27088313
http://dx.doi.org/10.1038/nmeth.3835
Descripción
Sumario:Current variant callers are not suitable for single-cell DNA sequencing (SCS) as they do not account for allelic dropout, false-positive errors, and coverage non-uniformity. We developed Monovar, a novel statistical method for detecting and genotyping single nucleotide variants in SCS data. Evaluation based on an isogenic fibroblast cell line and three different human tumor datasets showed substantial improvement of Monovar over standard algorithms for identifying driver mutations and delineating clonal substructure.