(Q38303683)

1 September 2017

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title

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer (English)

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1 September 2017

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whole genome sequencing

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2

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1 September 2017

Beryl Royer-Bertrand

1

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1 September 2017

30 December 2014

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Cellular and Molecular Life Sciences

1 September 2017

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1 September 2017

72

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1 September 2017

8

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1 September 2017

1463-1471

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https://scigraph.springernature.com/pub.10.1007/s00018-014-1807-9

1 September 2017

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cites work

Sequencing technologies and genome sequencing

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21 January 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

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Anatomy of a hash-based long read sequence mapping algorithm for next generation DNA sequencing

21 January 2018

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

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A practical method to detect SNVs and indels from whole genome and exome sequencing data

21 January 2018

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Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

21 January 2018

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Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

21 January 2018

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dbSNP: the NCBI database of genetic variation

21 January 2018

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Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Comparing a few SNP calling algorithms using low-coverage sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

21 January 2018

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Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

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Predicting the functional effect of amino acid substitutions and indels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Clinical assessment incorporating a personal genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

McKusick's Online Mendelian Inheritance in Man (OMIM)

21 January 2018

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

21 January 2018

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PharmGKB: the Pharmacogenetics Knowledge Base

21 January 2018

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Pharmaco-miR: linking microRNAs and drug effects

21 January 2018

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Whole-genome sequencing for optimized patient management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Genome sequencing identifies major causes of severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Alu repeats and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

A de novo paradigm for mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Genome remodelling in a basal-like breast cancer metastasis and xenograft

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Initial genome sequencing and analysis of multiple myeloma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Genome and transcriptome sequencing of lung cancers reveal diverse mutational and splicing events.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Whole-genome sequencing identifies recurrent somatic NOTCH2 mutations in splenic marginal zone lymphoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

SF3B1 mutations are associated with alternative splicing in uveal melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

A pilot study using next-generation sequencing in advanced cancers: feasibility and challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Genome and transcriptome sequencing in prospective metastatic triple-negative breast cancer uncovers therapeutic vulnerabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Landscape of genomic alterations in cervical carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Signatures of mutational processes in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-014-1807-9

Predicting functional effect of human missense mutations using PolyPhen-2.

21 January 2018

1 reference

12 December 2020

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

1 reference

12 December 2020

Accelerating read mapping with FastHASH.

1 reference

12 December 2020

Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3

1 reference

12 December 2020

10.1007/S00018-014-1807-9

Identifiers

DOI

1 reference

1 September 2017

1 reference

PubMed ID

25548800