Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1131
Abstract: This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP). read more here.
Keywords: families retinitis; application targeted; targeted panel; retinitis pigmentosa ... See more keywords
Clinical and analytical validation for HRD status using targeted panel sequencing.
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DOI: 10.1200/jco.2024.42.16_suppl.e17501
Abstract: e17501 Background: In cancer therapy, understanding homologous recombination deficiency (HRD) is paramount, particularly due to its positive association with sensitivity to PARP inhibitor (PARPi) therapy. We propose using a targeted sequencing approach as a cost-effective… read more here.
Keywords: targeted panel; hrd; using targeted; hrd status ... See more keywords
Targeted Panel Sequencing will Boost Detection of Genetic Backgrounds of Familial Hypercholesterolemia in the World's Most Populous Country
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DOI: 10.5551/jat.ed139
Abstract: Familial hypercholesterolemia (FH; OMIM #143890) is characterized by a clinical triad of primary hyper-LDL-cholesterolemia, tendon xanthomas, and premature atherosclerotic cardiovascular disease (ASCVD). Recently, researchers around the world, including ourselves, have shown that the prevalence of… read more here.
Keywords: familial hypercholesterolemia; world; hypercholesterolemia; among patients ... See more keywords