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。Natural genetic variation caused by small insertions and deletions in the human genome
Ryan E. Mills et al.
GENOME RESEARCH (2011)
Mapping copy number variation by population-scale genome sequencing
Ryan E. Mills et al.
NATURE (2011)
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Brian J. O'Roak et al.
NATURE GENETICS (2011)
A framework for variation discovery and genotyping using next-generation DNA sequencing data
Mark A. DePristo et al.
NATURE GENETICS (2011)
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Alan E. Renton et al.
NEURON (2011)
Detection and characterization of novel sequence insertions using paired-end next-generation sequencing
Iman Hajirasouliha et al.
BIOINFORMATICS (2010)
A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms
Jeffrey M. Kidd et al.
CELL (2010)
Public data archives for genomic structural variation
Deanna M. Church et al.
NATURE GENETICS (2010)
Characterization of missing human genome sequences and copy-number polymorphic insertions
Jeffrey M. Kidd et al.
NATURE METHODS (2010)
mrsFAST: a cache-oblivious algorithm for short-read mapping
Faraz Hach et al.
NATURE METHODS (2010)
Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
Kai Ye et al.
BIOINFORMATICS (2009)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
Short mucin 6 alleles are associated with H pylori infection
Thai V. Nguyen et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2006)
A haplotype map of the human genome
D Altshuler et al.
NATURE (2005)
Repeat instability: Mechanisms of dynamic mutations
CE Pearson et al.
NATURE REVIEWS GENETICS (2005)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)
分享论文
