Article

Germline mutation in rare disease

2020-01-01

Abstract excerpt

Germline mutation is the ultimate source of evolutionary change and disease-causing variants. Understanding the rates and patterns of human mutation can help us learn about their molecular origins, uncover our evolutionary history and improve our ability to identify the genetic causes of human disease. With the advent of exome and genome data sets of parent-offspring trios there is an unprecedented opportunity to...

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Literature Corpus work: 7d86ad43-0151-5eb6-8e9d-dc78236dd06c
DOI: 10.17863/cam.59808

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