(Q36657796)

15 August 2017

Automating resequencing-based detection of insertion-deletion polymorphisms (English)

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15 August 2017

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3

Deborah A Nickerson

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15 August 2017

Tushar R Bhangale

1

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15 August 2017

Matthew Stephens

series ordinal

2

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15 August 2017

language of work or name

English

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publication date

19 November 2006

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15 August 2017

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15 August 2017

38

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1457-1462

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12

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https://scigraph.springernature.com/pub.10.1038/ng1925

15 August 2017

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cites work

Large-scale copy number polymorphism in the human genome

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Fine-scale structural variation of the human genome

21 January 2018

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On the formation of spontaneous deletions: The importance of short sequence homologies in the generation of large deletions

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Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

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

21 January 2018

1 reference

Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease

21 January 2018

1 reference

Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis

21 January 2018

1 reference

Correlation between functional genotypes in the matrix metalloproteinases-1 promoter and risk of oral squamous cell carcinomas.

21 January 2018

1 reference

Human Gene Mutation Database (HGMD): 2003 update.

21 January 2018

1 reference

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

21 January 2018

1 reference

Automating sequence-based detection and genotyping of SNPs from diploid samples

21 January 2018

1 reference

novoSNP, a novel computational tool for sequence variation discovery

21 January 2018

1 reference

Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans

21 January 2018

1 reference

Pattern of sequence variation across 213 environmental response genes

21 January 2018

1 reference

A haplotype map of the human genome

21 January 2018

1 reference

InSNP: a tool for automated detection and visualization of SNPs and InDels.

21 January 2018

1 reference

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

21 January 2018

1 reference

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

21 January 2018

1 reference

High-throughput genotyping of intermediate-size structural variation

21 January 2018

1 reference

Complement factor H polymorphism in age-related macular degeneration

21 January 2018

1 reference

Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)

21 January 2018

1 reference

Positive selection on MMP3 regulation has shaped heart disease risk

21 January 2018

1 reference

Human diallelic insertion/deletion polymorphisms

21 January 2018

1 reference

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

21 January 2018

1 reference

Base-calling of automated sequencer traces using phred. II. Error probabilities

21 January 2018

1 reference

Consed: a graphical tool for sequence finishing

21 January 2018

1 reference

A general method applicable to the search for similarities in the amino acid sequence of two proteins

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

7 January 2021

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability

1 reference

7 January 2021

Widening the spectrum of human genetic variation

1 reference

7 January 2021

Variation is the spice of life

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7 January 2021

Identifiers

DOI

10.1038/NG1925

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Dimensions Publication ID

15 August 2017

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