Ontology highlight
ABSTRACT:
SUBMITTER: Rancelis T
PROVIDER: S-EPMC6865174 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Rančelis Tautvydas T Arasimavičius Justas J Ambrozaitytė Laima L Kavaliauskienė Ingrida I Domarkienė Ingrida I Karčiauskaitė Dovilė D Kučinskienė Zita Aušrelė ZA Kučinskas Vaidutis V
Genetics research 20170830
Next-generation sequencing (NGS) became an effective approach for finding novel causative genomic variants of genetic disorders and is increasingly used for diagnostic purposes. Public variant databases that gather data of pathogenic variants are being relied upon as a source for clinical diagnosis. However, research of pathogenic variants using public databases data could be carried out not only in patients, but also in healthy people. This could provide insights into the most common recessive ...[more]