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。EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Alberto Magi et al.
GENOME BIOLOGY (2013)
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Menachem Fromer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Copy Number Variation detection from 1000 Genomes project exon capture sequencing data
Jiantao Wu et al.
BMC BIOINFORMATICS (2012)
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
Swaroop Aradhya et al.
GENETICS IN MEDICINE (2012)
Copy number variation detection and genotyping from exome sequence data
Niklas Krumm et al.
GENOME RESEARCH (2012)
An integrated map of genetic variation from 1,092 human genomes
David M. Altshuler et al.
NATURE (2012)
NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy
Kim D. Pruitt et al.
NUCLEIC ACIDS RESEARCH (2012)
Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies
Ozlem Yalcin
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY (2012)
Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations
Hutton M. Kearney et al.
CLINICS IN LABORATORY MEDICINE (2011)
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
Patricia B. S. Celestino-Soper et al.
HUMAN MOLECULAR GENETICS (2011)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Structural Variation in the Human Genome and its Role in Disease
Pawel Stankiewicz et al.
ANNUAL REVIEW OF MEDICINE (2010)
The clinical context of copy number variation in the human genome
Charles Lee et al.
EXPERT REVIEWS IN MOLECULAR MEDICINE (2010)
Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH
Philip M. Boone et al.
HUMAN MUTATION (2010)
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications
Marwan K. Tayeh et al.
GENETICS IN MEDICINE (2009)