Article

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

2024-02-13

Abstract excerpt

Spinal muscular atrophy (SMA) is a genetic disorder that causes progressive degeneration of lower motor neurons and the subsequent loss of muscle function throughout the body. It is the second most common recessive disorder in individuals of European descent and is present in all populations. Accurate tools exist for diagnosing SMA from genome sequencing data. However, there are no publicly available tools for GRC...

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Literature Corpus work: d733e607-9e0b-5b99-a2f7-d876edd519d5
DOI: 10.1101/2024.02.11.24302646

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