Article

Phasing of <i>de novo</i> mutations using a scaled-up multiple amplicon long-read sequencing approach

2022-05-06

Abstract excerpt

De novo mutations (DNMs) play an important role in severe genetic disorders that reduce fitness. To better understand the role of DNMs in disease, it is important to determine the parent-of-origin and timing of the mutational events that give rise to the mutations, especially in sex-specific developmental disorders such as male infertility. However, currently available short-read sequencing approaches are not idea...

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Literature Corpus work: 700e2165-77cd-5a63-b91a-64698d267c46
DOI: 10.1101/2022.05.06.490885

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