Progress in the detection of human genome structural variations (Q37532036)

20 August 2017

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title

Progress in the detection of human genome structural variations (English)

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20 August 2017

XueMei WU

1

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20 August 2017

HuaSheng XIAO

series ordinal

2

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20 August 2017

publication date

26 June 2009

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Science in China. Series C: Life Sciences

20 August 2017

published in

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20 August 2017

volume

52

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20 August 2017

issue

6

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20 August 2017

page(s)

560-567

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Breakthrough of the year. Human genetic variation

20 August 2017

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SNP alleles in human disease and evolution

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Detection of large-scale variation in the human genome

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Large-scale copy number polymorphism in the human genome

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Human genome: patchwork people.

21 January 2018

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Copy number variation: new insights in genome diversity

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Structural variation of the human genome

21 January 2018

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Major changes in our DNA lead to major changes in our thinking

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Global variation in copy number in the human genome

21 January 2018

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An initial map of insertion and deletion (INDEL) variation in the human genome.

21 January 2018

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A new method for fluorescence microscopical localization of specific DNA sequences by in situ hybridization of fluorochrome-labelled RNA

21 January 2018

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The new cytogenetics: blurring the boundaries with molecular biology

21 January 2018

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Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

21 January 2018

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Integrated detection and population-genetic analysis of SNPs and copy number variation

21 January 2018

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BeadArray-based genotyping.

21 January 2018

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Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

21 January 2018

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Oligonucleotide array comparative genomic hybridization

21 January 2018

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Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

21 January 2018

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Array painting using microdissected chromosomes to map chromosomal breakpoints

21 January 2018

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Structural variants: changing the landscape of chromosomes and design of disease studies

21 January 2018

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High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)

21 January 2018

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MLPA and MAPH: new techniques for detection of gene deletions

21 January 2018

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21 January 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

21 January 2018

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Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay

21 January 2018

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MLGA--a rapid and cost-efficient assay for gene copy-number analysis

21 January 2018

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Finishing the euchromatic sequence of the human genome

21 January 2018

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Fine-scale structural variation of the human genome

21 January 2018

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Paired-end mapping reveals extensive structural variation in the human genome

21 January 2018

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De novo assembly and genomic structural variation analysis with genome sequencer FLX 3K long-tag paired end reads

21 January 2018

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Genome assembly comparison identifies structural variants in the human genome.

21 January 2018

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Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies

21 January 2018

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A BAC clone fingerprinting approach to the detection of human genome rearrangements

21 January 2018

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High-throughput sequencing provides insights into genome variation and evolution in Salmonella Typhi

21 January 2018

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The population genetics of structural variation

21 January 2018

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Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

21 January 2018

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Emerging themes and new challenges in defining the role of structural variation in human disease

21 January 2018

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The functional impact of structural variation in humans

21 January 2018

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Copy-number variation and association studies of human disease

21 January 2018

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Molecular genetics of inherited variation in human color vision

21 January 2018

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

21 January 2018

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Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.

21 January 2018

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The detection of large deletions or duplications in genomic DNA.

21 January 2018

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Challenges and standards in integrating surveys of structural variation

21 January 2018

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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

21 January 2018

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Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

21 January 2018

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Large differences in testosterone excretion in Korean and Swedish men are strongly associated with a UDP-glucuronosyl transferase 2B17 polymorphism

21 January 2018

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The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

21 January 2018

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Polymorphically duplicated genes: their relevance to phenotypic variation in humans

21 January 2018

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Functionally active duplications of the CYP2D6 gene are more prevalent among larynx and lung cancer patients.

21 January 2018

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NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses

21 January 2018

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Genotype, haplotype and copy-number variation in worldwide human populations

21 January 2018

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Completing the map of human genetic variation

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11427-009-0078-4

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11427-009-0078-4

Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization

21 January 2018

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10.1007/S11427-009-0078-4

21 January 2018

Identifiers

DOI

1 reference

20 August 2017

1 reference