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。Mapping and sequencing of structural variation from eight human genomes (Reprinted from Nature, vol 453, pg 56-64, 2008)
Jeffrey M. Kidd et al.
NATURE GENETICS (2009)
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
Tom Walsh et al.
SCIENCE (2008)
Mapping and sequencing of structural variation from eight human genomes
Jeffrey M. Kidd et al.
NATURE (2008)
Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases
Adam J. de Smith et al.
HUMAN MOLECULAR GENETICS (2007)
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
Kai Wang et al.
GENOME RESEARCH (2007)
Paired-end mapping reveals extensive structural variation in the human genome
Jan O. Korbel et al.
SCIENCE (2007)
Diet and the evolution of human amylase gene copy number variation
George H. Perry et al.
NATURE GENETICS (2007)
Copy number variants and common disorders: Filling the gaps and exploring complexity in genome-wide association studies
Xavier Estivill et al.
PLOS GENETICS (2007)
Mutational and selective effects on copy-number variants in the human genome
Gregory M. Cooper et al.
NATURE GENETICS (2007)
Unsupervised segmentation of continuous genomic data
Nathan Day et al.
BIOINFORMATICS (2007)
Completing the map of human genetic variation
Evan E. Eichler et al.
NATURE (2007)
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
Stefano Colella et al.
NUCLEIC ACIDS RESEARCH (2007)
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
Daisuke Komura et al.
GENOME RESEARCH (2006)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (2006)
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome
Donald F. Conrad et al.
NATURE GENETICS (2006)
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
Daniel A. Peiffer et al.
GENOME RESEARCH (2006)
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Andrew J. Sharp et al.
NATURE GENETICS (2006)
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome
Devin P. Locke et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
High-throughput genotyping of intermediate-size structural variation
TL Newman et al.
HUMAN MOLECULAR GENETICS (2006)
Common deletion polymorphisms in the human genome
SA McCarroll et al.
NATURE GENETICS (2006)
A haplotype map of the human genome
D Altshuler et al.
NATURE (2005)
Fine-scale structural variation of the human genome
E Tuzun et al.
NATURE GENETICS (2005)
Segmental duplications and copy-number variation in the human genome
AJ Sharp et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
E Gonzalez et al.
SCIENCE (2005)
Large-scale copy number polymorphism in the human genome
J Sebat et al.
SCIENCE (2004)
Shotgun sequence assembly and recent segmental duplications within the human genome
XW She et al.
NATURE (2004)
α-synuclein locus triplication causes Parkinson's disease
AB Singleton et al.
SCIENCE (2003)