Hypothesis-free detection of genome-changing events in pedigree sequencing

<p>In high-diversity populations, a complete accounting of de novo mutations can be difficult to obtain. Most analyses involve identifying such mutations by sequencing pedigrees on second-generation sequencing platforms and aligning the short reads to a reference assembly, the genomic sequence...

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Bibliographic Details
Main Author: Garimella, K
Other Authors: McVean, G
Format: Thesis
Language:English
Published: 2016
Subjects: