Ontology highlight
ABSTRACT:
SUBMITTER: Standage DS
PROVIDER: S-EPMC6682328 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
iScience 20190723
De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of interest. To distinguish between inherited and de novo variation, sequencing of families (parents and siblings) is commonly pursued. However, standard mapping-based approaches tend to have a high false-discovery rate for de novo variant prediction. ...[more]