Name: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics) (en Inglés)
SKU: 53502754
Price: 469077.00 COP
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ISBN: 9780128201404

portada Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics) (en Inglés)

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics) (en Inglés)

Formato

Libro Físico

Editorial

Academic Press Inc

Año

2021

Idioma

Inglés

N° páginas

316

Encuadernación

Tapa Blanda

ISBN13

9780128201404

N° edición

Categorías

Genética médica

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics) (en Inglés)

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Reseña del libro "Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches (Translational and Applied Genomics) (en Inglés)"

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.