Sign in
Back
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Journal article   Open access  Peer reviewed

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif Almontashiri, Mohammed Alowain, Hamad Alzaidan, Moeen Alsayed, Shazia Subhani, …
American journal of human genetics, Vol.104(6), pp.1182-1201
06/06/2019
DOI: https://doi.org/10.1016/j.ajhg.2019.04.011
PMCID: PMC6562004
PMID: 31130284

Abstract

autozygome candidate genes clinical genomics dual diagnosis exome expanded carrier screening fetal malformation first-tier genomics-first gonadal mosaicism hybrid phenotype knockout multilocus phenotypes phenotypic expansion prenatal
url
https://doi.org/10.1016/j.ajhg.2019.04.011View
Published (Version of record) Open

Metrics

1 Record Views

Details