(Q33912816)

30 July 2017

Strategies for exome and genome sequence data analysis in disease-gene discovery projects (English)

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30 July 2017

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Peter N Robinson

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Peter Krawitz

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P Krawitz

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2

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author name string

S Mundlos

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3

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30 July 2017

13 June 2011

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30 July 2017

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30 July 2017

80

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30 July 2017

127-132

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30 July 2017

2

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Targeted capture and massively parallel sequencing of 12 human exomes

30 July 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Methods for genomic partitioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Enabling technologies of genomic-scale sequence enrichment for targeted high-throughput sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Target-enrichment strategies for next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

The characterization of twenty sequenced human genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Database resources of the National Center for Biotechnology Information

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

A map of human genome variation from population-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Rate, molecular spectrum, and consequences of human mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Genetic mapping in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Bioinformatics for human genetics: promises and challenges.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Computational methods for discovering structural variation with next-generation sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

The human phenotype ontology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01713.X

10.1111/J.1399-0004.2011.01713.X

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

21615730