Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6147
Abstract: We investigated a custom congenital heart disease (CHD) geneset to assess the diagnostic value of whole‐exome sequencing (WES) in karyotype‐ and copy number variation (CNV)‐negative aborted fetuses with conotruncal defects (CTDs), and to explore the… read more here.
Keywords: yield whole; whole exome; diagnostic yield; exome data ... See more keywords
Reference exome data for a Northern Brazilian population
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Data"
DOI: 10.1038/s41597-020-00703-y
Abstract: Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a… read more here.
Keywords: exome data; diagnosis rare; reference; data northern ... See more keywords
#3721 Pharmacogenetic analysis from exome data and pharmaco-clinico-biological co-interpretation enable personalized care in nephrology and kidney transplantation
Sign Up to like & getrecommendations! Published in 2025 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfaf116.0173
Abstract: Preemptive pharmacogenetic panel testing has been shown to reduce the incidence of clinically detectable side effects by 30%. At Sorbonne University, exome sequencing is routinely performed for adults with unknown nephropathy or genetically-suspected chronic kidney… read more here.
Keywords: exome data; nephrology; kidney; pharmacogenetic analysis ... See more keywords