(Q51620246)

8 April 2018

title

Exome and whole-genome sequencing for gene discovery: the future is now! (English)

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8 April 2018

main subject

whole genome sequencing

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Jacek Majewski

1

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8 April 2018

David S Rosenblatt

series ordinal

2

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8 April 2018

publication date

1 April 2012

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8 April 2018

published in

Human Mutation

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8 April 2018

volume

33

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8 April 2018

issue

4

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8 April 2018

page(s)

591-592

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8 April 2018

Analysis of DNA sequence variants detected by high-throughput sequencing

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

Detecting false-positive signals in exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

A polymorphic DNA marker genetically linked to Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

What can exome sequencing do for you?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

A RaDiCAL approach to gene discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22055

21 January 2018

Identifiers

DOI

10.1002/HUMU.22055

1 reference

8 April 2018

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8 April 2018