Ontology highlight
ABSTRACT:
SUBMITTER: Quinodoz M
PROVIDER: S-EPMC7822856 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Quinodoz Mathieu M Peter Virginie G VG Bedoni Nicola N Royer Bertrand Béryl B Cisarova Katarina K Salmaninejad Arash A Sepahi Neda N Rodrigues Raquel R Piran Mehran M Mojarrad Majid M Pasdar Alireza A Ghanbari Asad Ali A Sousa Ana Berta AB Coutinho Santos Luisa L Superti-Furga Andrea A Rivolta Carlo C
Nature communications 20210122 1
Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or common SNPs. Traditional software performs rather poorly with data from Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), which are now extensively used in medical genetics. We develop AutoMa ...[more]