8 Result(s)
within
Michael C Zody
Life Sciences
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Article
Open AccessGenome-wide somatic variant calling using localized colored de Bruijn graphs
Reliable detection of somatic variations is of critical importance in cancer research. Here we present Lancet, an accurate and sensitive somatic variant caller, which detects SNVs and indels by jointly analyzi...
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Article
Indel variant analysis of short-read sequencing data with Scalpel
Fang et al. describe a computational protocol to accurately call indels from whole-genome and whole-exome sequencing data using Scalpel. Important issues for indel identification, such as short repeat regions and...
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Article
Open AccessV-Phaser 2: variant inference for viral populations
Massively parallel sequencing offers the possibility of revolutionizing the study of viral populations by providing ultra deep sequencing (tens to hundreds of thousand fold coverage) of complete viral genomes....
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Article
Open AccessDe novo assembly of highly diverse viral populations
Extensive genetic diversity in viral populations within infected hosts and the divergence of variants from existing reference genomes impede the analysis of deep viral sequencing data. A de novo population consen...
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Article
Open AccessNovel origins of copy number variation in the dog genome
Copy number variants (CNVs) account for substantial variation between genomes and are a major source of normal and pathogenic phenotypic differences. The dog is an ideal model to investigate mutational mechani...
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Article
Erratum to: Closing gaps in the human genome using sequencing by synthesis
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Article
Advancing RNA-Seq analysis
New methods for analyzing RNA-Seq data enable de novo reconstruction of the transcriptome.
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Article
Open AccessClosing gaps in the human genome using sequencing by synthesis
The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature....
