Next generation sequencing : translation to clinical diagnostics

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In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders.

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Detail Information

Series Title

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Call Number

572.8 Nex

Publisher

New York : Springer., 2013

Collation

xi, 302 p. : ill. : ind. ; 24 cm.

Language

English

ISBN/ISSN

9781461470007

Classification

NONE

Content Type

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Media Type

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Carrier Type

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Edition

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Subject(s)

Sequence Analysis

Specific Detail Info

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Statement of Responsibility

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