Customized de novo mutation detection for any variant calling pipeline: SynthDNM
Abstract
As sequencing technologies and analysis pipelines evolve, de novo mutation (DNM) calling tools must be adapted. Therefore, a flexible approach is needed that can accurately identify DNMs from genome or exome sequences from a variety of datasets and variant calling pipelines.Here, we describe SynthDNM, a random-forest based classifier that can be readily adapted to new sequencing or variant-calling pipelines by applying a flexible approach to...
Paper Details
Title
Customized de novo mutation detection for any variant calling pipeline: SynthDNM
Published Date
Apr 2, 2021
Journal
Volume
37
Issue
20
Pages
3640 - 3641
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