Genomics of Rare Diseases : Understanding Disease Genetics Using Genomic Approaches Paperback / softback
Edited by Claudia (International Laboratory for Human Genome Research, Laboratorio Internaci Gonzaga-Jauregui, James R. (The Cullen Professor of Genetics and Genomics and Professor of Pediatrics, Baylor Lupski
Part of the Translational and Applied Genomics series
Paperback / softback
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Description
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.
Information
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In Stock - low on stock, only 1 copy remainingFree UK DeliveryEstimated delivery 2-3 working days
- Format:Paperback / softback
- Pages:316 pages, 60 illustrations (40 in full color); Illustrations, unspecified
- Publisher:Elsevier Science Publishing Co Inc
- Publication Date:25/06/2021
- Category:
- ISBN:9780128201404
Information
-
In Stock - low on stock, only 1 copy remainingFree UK DeliveryEstimated delivery 2-3 working days
- Format:Paperback / softback
- Pages:316 pages, 60 illustrations (40 in full color); Illustrations, unspecified
- Publisher:Elsevier Science Publishing Co Inc
- Publication Date:25/06/2021
- Category:
- ISBN:9780128201404