Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing
出版年份 2014 全文链接
标题
Resolving genomic disorder–associated breakpoints within segmental DNA duplications using massively parallel sequencing
作者
关键词
-
出版物
Nature Protocols
Volume 9, Issue 6, Pages 1496-1513
出版商
Springer Nature America, Inc
发表日期
2014-05-29
DOI
10.1038/nprot.2014.096
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Using population admixture to help complete maps of the human genome
- (2013) Giulio Genovese et al. NATURE GENETICS
- Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions
- (2013) Xander Nuttle et al. NATURE METHODS
- Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data
- (2013) Chen-Shan Chin et al. NATURE METHODS
- Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
- (2012) Andy Itsara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
- (2012) Megan Y. Dennis et al. CELL
- Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
- (2012) Brock A. Peters et al. NATURE
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- Mapping copy number variation by population-scale genome sequencing
- (2011) Ryan E. Mills et al. NATURE
- Structural Variation in the Human Genome and its Role in Disease
- (2010) Paweł Stankiewicz et al. Annual Review of Medicine
- Phenotypic variability and genetic susceptibility to genomic disorders
- (2010) S. Girirajan et al. HUMAN MOLECULAR GENETICS
- Haplotype-resolved genome sequencing of a Gujarati Indian individual
- (2010) Jacob O Kitzman et al. NATURE BIOTECHNOLOGY
- Characterization of missing human genome sequences and copy-number polymorphic insertions
- (2010) Jeffrey M Kidd et al. NATURE METHODS
- Diversity of Human Copy Number Variation and Multicopy Genes
- (2010) Peter H. Sudmant et al. SCIENCE
- Personalized copy number and segmental duplication maps using next-generation sequencing
- (2009) Can Alkan et al. NATURE GENETICS
- Massively parallel exon capture and library-free resequencing across 16 genomes
- (2009) Emily H Turner et al. NATURE METHODS
- Evolutionary toggling of the MAPT 17q21.31 inversion region
- (2008) Michael C Zody et al. NATURE GENETICS
- Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
- (2008) Trilochan Sahoo et al. NATURE GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started