Ontology highlight
ABSTRACT:
SUBMITTER: Bosio M
PROVIDER: S-EPMC6767450 | biostudies-literature | 2019 Jul
REPOSITORIES: biostudies-literature
Bosio Mattia M Drechsel Oliver O Rahman Rubayte R Muyas Francesc F Rabionet Raquel R Bezdan Daniela D Domenech Salgado Laura L Hor Hyun H Schott Jean-Jacques JJ Munell Francina F Colobran Roger R Macaya Alfons A Estivill Xavier X Ossowski Stephan S
Human mutation 20190521 7
Mendelian diseases have shown to be an and efficient model for connecting genotypes to phenotypes and for elucidating the function of genes. Whole-exome sequencing (WES) accelerated the study of rare Mendelian diseases in families, allowing for directly pinpointing rare causal mutations in genic regions without the need for linkage analysis. However, the low diagnostic rates of 20-30% reported for multiple WES disease studies point to the need for improved variant pathogenicity classification an ...[more]