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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)
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Maria Francesca Cardone et al.
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
D. A. Koolen et al.
JOURNAL OF MEDICAL GENETICS (2008)
Closing gaps in the human genome with fosmid resources generated from multiple individuals
Donald Bovee et al.
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Recurrent reciprocal genomic Rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
Heather C. Mefford et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution
Zhaoshi Jiang et al.
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Paired-end mapping reveals extensive structural variation in the human genome
Jan O. Korbel et al.
SCIENCE (2007)
A second generation human haplotype map of over 3.1 million SNPs
Kelly A. Frazer et al.
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A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
Maria Kirchhoff et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2007)
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
Roberto Giorda et al.
HUMAN MUTATION (2007)
Evidence for large inversion polymorphisms in the human genome from HapMap data
Vikas Bansal et al.
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Andrew J. Sharp et al.
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A comprehensive analysis of common copy-number variations in the human genome
Kendy K. Wong et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Global variation in copy number in the human genome
Richard Redon et al.
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
David A. Koolen et al.
NATURE GENETICS (2006)
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
Charles Shaw-Smith et al.
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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Andrew J. Sharp et al.
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A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions
Gareth Baynam et al.
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DNA sequence and analysis of human chromosome 8
C Nusbaum et al.
NATURE (2006)
3q29 Microdeletion syndrome: Clinical and molecular characterization of a new syndrome
L Willatt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (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)
Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats
N Kurotaki et al.
HUMAN MOLECULAR GENETICS (2005)
A common inversion under selection in Europeans
H Stefansson et al.
NATURE GENETICS (2005)
Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-mb microdeletion
R Visser et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Detection of large-scale variation in the human genome
AJ Iafrate et al.
NATURE GENETICS (2004)
Large-scale copy number polymorphism in the human genome
J Sebat et al.
SCIENCE (2004)
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23
H Sugawara et al.
GENOMICS (2003)
Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
G Gimelli et al.
HUMAN MOLECULAR GENETICS (2003)
Recent segmental duplications in the human genome
JA Bailey et al.
SCIENCE (2002)
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
S Giglio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome
LR Osborne et al.
NATURE GENETICS (2001)
Segmental duplications: Organization and impact within the current Human Genome Project assembly
JA Bailey et al.
GENOME RESEARCH (2001)
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
S Giglio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
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