Genome structural variation discovery and genotyping
نویسندگان
چکیده
منابع مشابه
Structural Variation Discovery and Genotyping from Whole Genome Sequencing: Methodology and Applications: A Dissertation
A comprehensive understanding about how genetic variants and mutations contribute to phenotypic variations and alterations entails experimental technologies and analytical methodologies that are able to detect genetic variants/mutations from various biological samples in a timely and accurate manner. High-throughput sequencing technology represents the latest achievement in a series of efforts ...
متن کاملCorrigendum: Discovery and genotyping of structural variation from long-read haploid genome sequence data.
In an effort to more fully understand the full spectrum of human genetic variation, we generated deep single-molecule, real-time (SMRT) sequencing data from two haploid human genomes. By using an assembly-based approach (SMRT-SV), we systematically assessed each genome independently for structural variants (SVs) and indels resolving the sequence structure of 461,553 genetic variants from 2 bp t...
متن کاملDiscovery and genotyping of structural variation from long-read haploid genome sequence data
1. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA 2. Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA 3. McDonnell Genome Institute, Department of Medicine, Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA 4. Department of Pathology, University of Pittsburgh, Pittsburgh...
متن کاملGenome analysis Population-based structural variation discovery with Hydra-Multi
Summary: Current strategies for SNP and INDEL discovery incorporate sequence alignments from multiple individuals to maximize sensitivity and specificity. It is widely accepted that this approach also improves structural variant (SV) detection. However, multisample SV analysis has been stymied by the fundamental difficulties of SV calling, e.g. library insert size variability, SV alignment sign...
متن کاملStructural variation discovery in the cancer genome using next generation sequencing: Computational solutions and perspectives
Somatic Structural Variations (SVs) are a complex collection of chromosomal mutations that could directly contribute to carcinogenesis. Next Generation Sequencing (NGS) technology has emerged as the primary means of interrogating the SVs of the cancer genome in recent investigations. Sophisticated computational methods are required to accurately identify the SV events and delineate their breakp...
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ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2011
ISSN: 1471-0056,1471-0064
DOI: 10.1038/nrg2958