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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1434029057

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

About this item

Full title

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Publisher

England: Nature Publishing Group

Journal title

Journal of human genetics, 2012-10, Vol.57 (10), p.621-632

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Traditional approaches for gene mapping from candidate gene studies to positional cloning strategies have been applied for Mendelian disorders. Since 2005, next-generation sequencing (NGS) technologies are improving as rapid, high-throughput and cost-effective approaches to fulfill medical sciences and research demands. Using NGS, the underlying ca...

Alternative Titles

Full title

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1434029057

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1434029057

Other Identifiers

ISSN

1434-5161

E-ISSN

1435-232X

DOI

10.1038/jhg.2012.91

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