Ontology highlight
ABSTRACT:
SUBMITTER: Bellos E
PROVIDER: S-EPMC4056371 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Bellos Evangelos E Johnson Michael R MR Coin Lachlan J M LJ
Genome biology 20121222 12
Recent advances in sequencing technologies provide the means for identifying copy number variation (CNV) at an unprecedented resolution. A single next-generation sequencing experiment offers several features that can be used to detect CNV, yet current methods do not incorporate all available signatures into a unified model. cnvHiTSeq is an integrative probabilistic method for CNV discovery and genotyping that jointly analyzes multiple features at the population level. By combining evidence from ...[more]