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
Nanopanel2 calls phased low-frequency variants in Nanopore panel sequencing data.
Sign Up to like & getrecommendations! Published in 2021 at "Bioinformatics"
DOI: 10.1093/bioinformatics/btab526
Abstract: MOTIVATION Clinical decision making is increasingly guided by accurate and recurrent determination of presence and frequency of (somatic) variants and their haplotype through panel sequencing of disease-relevant genomic regions. Haplotype calling (phasing), however, is difficult… read more here.
Keywords: sequencing data; nanopore panel; panel sequencing; panel ... See more keywords
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea
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DOI: 10.1097/mib.0000000000001235
Abstract: Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions.… read more here.
Keywords: early onset; inflammatory bowel; disease; panel sequencing ... See more keywords
Mutational Signature 3 Detected from Clinical Panel Sequencing is Associated with Responses to Olaparib in Breast and Ovarian Cancers
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Cancer Research"
DOI: 10.1158/1078-0432.ccr-22-0749
Abstract: Abstract Purpose: The identification of patients with homologous recombination deficiency (HRD) beyond BRCA1/2 mutations is an urgent task, as they may benefit from PARP inhibitors. We have previously developed a method to detect mutational signature… read more here.
Keywords: panel sequencing; mutational signature; sequencing data; panel ... See more keywords
Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers14041074
Abstract: Simple Summary Pancreatic ductal adenocarcinoma (PDAC) has still a dismal prognosis. To improve treatment, personalized medicine uses next-generation DNA sequencing to monitor disease and guide treatment decisions. Tumor samples for sequencing are usually obtained by… read more here.
Keywords: dna; pancreatic ductal; panel sequencing; medicine ... See more keywords
Panel Sequencing of Primary Cutaneous B-Cell Lymphoma
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DOI: 10.3390/cancers14215274
Abstract: Simple Summary Primary cutaneous follicular B-cell lymphoma (PCFBCL) is a rare lymphoma subtype of the skin. Its biological behavior is mostly indolent, with slowly growing skin lesions exhibiting high response rates to topical or systemic… read more here.
Keywords: panel sequencing; cell; lymphoma; cell lymphoma ... See more keywords
The results of multigene panel sequencing in Slovak HBOC families.
Sign Up to like & getrecommendations! Published in 2021 at "Neoplasma"
DOI: 10.4149/neo_2021_201204n1307
Abstract: Hereditary breast and ovarian cancer (HBOC) is primarily associated with mutations in the BRCA1/2 genes. However, causal variants in other high, moderate, and low penetrance genes proportionally increase the risk of breast/ovarian cancer. This study… read more here.
Keywords: panel; slovak hboc; panel sequencing; multigene panel ... See more keywords
Targeted Panel Sequencing will Boost Detection of Genetic Backgrounds of Familial Hypercholesterolemia in the World's Most Populous Country
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Atherosclerosis and Thrombosis"
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