Exome‐based preconception carrier testing for consanguineous couples in China
Sign Up to like & getrecommendations! Published in 2021 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6018
Abstract: To evaluate the utility of clinical exome sequencing (ES)‐based carrier screening in Chinese consanguineous couples. read more here.
Keywords: preconception carrier; based preconception; consanguineous couples; exome based ... See more keywords
Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.956723
Abstract: Background: Next-generation sequencing-based genetic testing represents a great opportunity to identify hereditary predispositions to specific pathological conditions and to promptly implement health surveillance or therapeutic protocols in case of disease. The term secondary finding refers… read more here.
Keywords: medically actionable; clinical exome; based panel; exome based ... See more keywords