Article
Detection of simple and complex de novo mutations with multiple reference sequences.
Genome research - 1 Aug 2020
Garimella Kiran V, Iqbal Zamin, Krause Michael A, Campino Susana, Kekre Mihir, Drury Eleanor, Kwiatkowski Dominic, Sá Juliana M, Wellems Thomas E, McVean Gil
Abstract excerpt
The characterization of de novo mutations in regions of high sequence and structural diversity from whole-genome sequencing data remains highly challenging. Complex structural variants tend to arise in regions of high repetitiveness and low complexity, challenging both de novo assembly, in which short reads do not capture the long-range context required for resolution, and mapping approaches, in which improper...
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