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Next Generation Sequencing - Translation to Clinical Diagnostics (Hardcover, 2013 ed.)
Loot Price: R7,739
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Next Generation Sequencing - Translation to Clinical Diagnostics (Hardcover, 2013 ed.)
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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. This book covers topics of these applications,
including potential limitations and expanded application in the
future.
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