Genomics of Rare Diseases - Understanding Disease Genetics Using Genomic Approaches (Paperback)

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism.

General

Imprint:	Academic Press Inc
Country of origin:	United States
Series:	Translational and Applied Genomics
Release date:	June 2021
First published:	2021
Editors:	Claudia Gonzaga-Jauregui • James R Lupski
Dimensions:	235 x 191 x 24mm (L x W x T)
Format:	Paperback
Pages:	316
ISBN-13:	978-0-12-820140-4
Categories:	Books > Science & Mathematics > Biology, life sciences > Life sciences: general issues > Genetics (non-medical) > DNA
LSN:	0-12-820140-1
Barcode:	9780128201404

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