(Q33965294)

30 July 2017

title

Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing (English)

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30 July 2017

3

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30 July 2017

4

Evan E Eichler

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30 July 2017

1

Xander Nuttle

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30 July 2017

2

Andy Itsara

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30 July 2017

publication date

29 May 2014

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30 July 2017

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30 July 2017

volume

9

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30 July 2017

issue

6

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30 July 2017

page(s)

1496-1513

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describes a project that uses

30 July 2017

1 reference

10 June 2022

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/efetch.fcgi?db=pmc&rettype=xml&id=4114152

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5 July 2018

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Using population admixture to help complete maps of the human genome

5 July 2018

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5 July 2018

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5 July 2018

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Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication

5 July 2018

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Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

5 July 2018

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Mapping copy number variation by population-scale genome sequencing

5 July 2018

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5 July 2018

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5 July 2018

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Phenotypic variability and genetic susceptibility to genomic disorders

5 July 2018

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5 July 2018

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Structural variation in the human genome and its role in disease

5 July 2018

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5 July 2018

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5 July 2018

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5 July 2018

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Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

5 July 2018

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Closing gaps in the human genome with fosmid resources generated from multiple individuals

5 July 2018

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Oligonucleotide array comparative genomic hybridization

5 July 2018

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Multiplex amplification of large sets of human exons

5 July 2018

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

5 July 2018

1 reference

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Segmental duplications and copy-number variation in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4114152

High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage

5 July 2018

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Recent segmental duplications in the working draft assembly of the brown Norway rat.

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4114152

Molecular mechanisms for genomic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4114152

Genome architecture, rearrangements and genomic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4114152

Segmental duplications: organization and impact within the current human genome project assembly

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4114152

Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome

5 July 2018

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The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4114152

Comprehensive human genetic maps: individual and sex-specific variation in recombination

5 July 2018

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Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

5 July 2018

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5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2014.096

A physical map of the human Y chromosome

21 January 2018

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https://api.crossref.org/works/10.1038%2FNPROT.2014.096

Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2014.096

Conversion Technology for the separation of maternal and paternal copies of any autosomal chromosome in somatic cell hybrids.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4114152

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

29 October 2018

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https://api.crossref.org/works/10.1038%2FNPROT.2014.096

Microsatellite fragment analysis using the ABI PRISM ® 377 DNA sequencer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNPROT.2014.096

31 March 2020

Identifiers

DOI

10.1038/NPROT.2014.096

1 reference

Dimensions Publication ID

30 July 2017

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30 July 2017

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