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。Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
Joseph B. Hiatt et al.
GENOME RESEARCH (2013)
Molecular methods for genotyping complex copy number polymorphisms
Stuart Cantsilieris et al.
GENOMICS (2013)
Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
Andy Itsara et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
Heike Olbrich et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
Megan Y. Dennis et al.
CELL (2012)
Association analysis of the CCL3L1 copy number locus by paralogue ratio test in Norwegian rheumatoid arthritis patients and healthy controls
G. B. N. Nordang et al.
GENES AND IMMUNITY (2012)
Copy number variation detection and genotyping from exome sequence data
Niklas Krumm et al.
GENOME RESEARCH (2012)
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O'Roak et al.
SCIENCE (2012)
Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
Catarina D. Campbell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders
Danielle Carpenter et al.
BMC GENOMICS (2011)
Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease
Marian C. Aldhous et al.
HUMAN MOLECULAR GENETICS (2010)
Assessment of Complement C4 Gene Copy Number Using the Paralog Ratio Test
Michelle M. A. Fernando et al.
HUMAN MUTATION (2010)
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk
Francesca Antonacci et al.
NATURE GENETICS (2010)
mrsFAST: a cache-oblivious algorithm for short-read mapping
Faraz Hach et al.
NATURE METHODS (2010)
VIEWPOINT Missing heritability and strategies for finding the underlying causes of complex disease
Evan E. Eichler et al.
NATURE REVIEWS GENETICS (2010)
Diversity of Human Copy Number Variation and Multicopy Genes
Peter H. Sudmant et al.
SCIENCE (2010)
Systematic Inference of Copy-Number Genotypes from Personal Genome Sequencing Data Reveals Extensive Olfactory Receptor Gene Content Diversity
Sebastian M. Waszak et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Adaptive evolution of young gene duplicates in mammals
Mira V. Han et al.
GENOME RESEARCH (2009)
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)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
Feng Zhang et al.
NATURE GENETICS (2009)
Personalized copy number and segmental duplication maps using next-generation sequencing
Can Alkan et al.
NATURE GENETICS (2009)
CCL3L1 and HIV/AIDS susceptibility
Tanmoy Bhattacharya et al.
NATURE MEDICINE (2009)
Massively parallel exon capture and library-free resequencing across 16 genomes
Emily H. Turner et al.
NATURE METHODS (2009)
Broad-Scale Recombination Patterns Underlying Proper Disjunction in Humans
Adi Fledel-Alon et al.
PLOS GENETICS (2009)
High-Resolution Mapping of the 8p23.1 Beta-Defensin Cluster Reveals Strictly Concordant Copy Number Variation of All Genes
Marco Groth et al.
HUMAN MUTATION (2008)
Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley et al.
NATURE (2008)
Mapping and sequencing of structural variation from eight human genomes
Jeffrey M. Kidd et al.
NATURE (2008)
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
Jennifer A. Lee et al.
CELL (2007)
Multiplex amplification of large sets of human exons
Gregory J. Porreca et al.
NATURE METHODS (2007)
Gene conversion: mechanisms, evolution and human disease
Jian-Min Chen et al.
NATURE REVIEWS GENETICS (2007)
Copy-number variation and association studies of human disease
Steven A. McCarroll et al.
NATURE GENETICS (2007)
Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats
John A. L. Armour et al.
NUCLEIC ACIDS RESEARCH (2007)
A 360-kb interchromosomal duplication of the human HYDIN locus
Norman A. Doggett et al.
GENOMICS (2006)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (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)
Primate segmental duplications: crucibles of evolution, diversity and disease
Jeffrey A. Bailey et al.
NATURE REVIEWS GENETICS (2006)
Genome-wide search of gene conversions in duplicated genes of mouse and rat
K Ezawa et al.
MOLECULAR BIOLOGY AND EVOLUTION (2006)
Evidence for widespread reticulate evolution within human duplicons
MS Jackson 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)
Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay
P Hardenbol et al.
GENOME RESEARCH (2005)
Gene conversion and deletion frequencies during double-strand break repair in human cells are controlled by the distance between direct repeats
E Schildkraut et al.
NUCLEIC ACIDS RESEARCH (2005)
Large-scale copy number polymorphism in the human genome
J Sebat et al.
SCIENCE (2004)
Multiplexed genotyping with sequence-tagged molecular inversion probes
P Hardenbol et al.
NATURE BIOTECHNOLOGY (2003)
Duplication and selection in the evolution of primate beta-defensin genes
CAM Semple et al.
GENOME BIOLOGY (2003)
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
JP Schouten et al.
NUCLEIC ACIDS RESEARCH (2002)
Multiplex polymerase chain reaction: A practical approach
P Markoulatos et al.
JOURNAL OF CLINICAL LABORATORY ANALYSIS (2002)
Measurement of locus copy number by hybridisation with amplifiable probes
JAL Armour et al.
NUCLEIC ACIDS RESEARCH (2000)