(Q34175328)

31 July 2017

title

Natural genetic variation caused by small insertions and deletions in the human genome (English)

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31 July 2017

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31 July 2017

Julienne M Mullaney

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Ryan E Mills

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W Stephen Pittard

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31 July 2017

Umar Farooq

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31 July 2017

Todd H Creasy

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31 July 2017

Anup A Mahurkar

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31 July 2017

David M Kemeza

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31 July 2017

Daniel S Strassler

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31 July 2017

Caleb Webber

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31 July 2017

Scott E Devine

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31 July 2017

publication date

1 April 2011

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31 July 2017

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

830-839

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Mapping copy number variation by population-scale genome sequencing

31 July 2017

cites work

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

5 July 2018

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Natural mutagenesis of human genomes by endogenous retrotransposons

5 July 2018

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Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

5 July 2018

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5 July 2018

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Origins and functional impact of copy number variation in the human genome

5 July 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

5 July 2018

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5 July 2018

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5 July 2018

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Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

5 July 2018

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5 July 2018

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Genome-wide QTL mapping for three traits related to teat number in a White Duroc x Erhualian pig resource population

5 July 2018

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DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

5 July 2018

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The diploid genome sequence of an Asian individual

5 July 2018

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Accurate whole human genome sequencing using reversible terminator chemistry

5 July 2018

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Genetic variation in an individual human exome

5 July 2018

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Mapping and sequencing of structural variation from eight human genomes

5 July 2018

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The complete genome of an individual by massively parallel DNA sequencing

5 July 2018

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Paired-end mapping reveals extensive structural 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=3106316

The diploid genome sequence of an individual human

5 July 2018

1 reference

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IRAK-M is involved in the pathogenesis of early-onset persistent asthma

5 July 2018

1 reference

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Which transposable elements are active 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=3106316

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

An initial map of insertion and deletion (INDEL) 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=3106316

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

A haplotype map of 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=3106316

Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Initial sequence of the chimpanzee genome and comparison with 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=3106316

Fine-scale structural variation of 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=3106316

The Mouse Genome Database (MGD): from genes to mice--a community resource for mouse biology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Natural genetic variation caused by transposable elements in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Detection of large-scale 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=3106316

Large-scale copy number polymorphism 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=3106316

Occurrence and consequences of coding sequence insertions and deletions in Mammalian genomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

The International HapMap Project

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Single nucleotide polymorphisms (SNPs) that map to gaps in the human SNP map

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Population differences in the human functional olfactory repertoire

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Human diallelic insertion/deletion polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

The p400 complex is an essential E1A transformation target

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Initial sequencing and analysis of 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=3106316

The Sequence of 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=3106316

A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

A DNA polymorphism discovery resource for research on human genetic variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

International genome project launched.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Indel arrays: an affordable alternative for genotyping

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Mouse genome informatics (MGI) resources for pathology and toxicology

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Common deletion polymorphisms in the human genome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Polymorphisms in the human high sulfur hair keratin-associated protein 1, KAP1, gene family

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Common deletions and SNPs are in linkage disequilibrium in the human genome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Allelic Variation in Human Gene Expression

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3106316

Natural selection at major histocompatibility complex loci of vertebrates

28 October 2018

1 reference

12 December 2020

A high-resolution survey of deletion polymorphism in the human genome

1 reference

12 December 2020

Dentin sialophosphoprotein expression during human matrix development

1 reference

12 December 2020

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

1 reference

12 December 2020

An open access database of genome-wide association results

1 reference

12 December 2020

Natural variation in human gene expression assessed in lymphoblastoid cells

1 reference

12 December 2020

Chromosome instability and nibrin protein variants in NBS heterozygotes

1 reference

12 December 2020

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls

1 reference

12 December 2020

Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1101/GR.115907.110

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31 July 2017

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31 July 2017

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