Results 81 to 90 of about 224,383 (352)
Action and the Actionability in Exome Variation [PDF]
Circulation: Cardiovascular Genetics, 2012 As next-generation sequencing emerges as a clinical tool, one of the greatest challenges facing human geneticists and clinicians is the interpretation of the vast numbers of novel variants that are uncovered in each exome or genome. The traditional evaluation of genetic variation in Mendelian disease has hinged on several widely accepted criteria for ...
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Molecular Oncology, EarlyView.In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim +11 more
wiley +1 more source
ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]
, 2018 Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal +18 more
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2021 Background Pediatric cardiomyopathy is a genetically heterogeneous disease with substantial morbidity and mortality. Current guidelines recommend genetic testing in children with hypertrophic, dilated, or restrictive cardiomyopathy, but practice ...
Stephanie M. Ware +30 more
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Molecular Oncology, EarlyView.Single‐cell transcriptomics of prostate cancer patient‐derived xenografts reveals distinct features of neuroendocrine (NE) subtypes. Tumours with focal NE differentiation (NED) share transcriptional programmes with adenocarcinoma, differing from large and small cell neuroendocrine prostate cancer (NEPC). Our work defines the molecular landscape of NEPC,
Rosalia Quezada Urban +12 more
wiley +1 more source
Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes [PDF]
Bioinformatics, 2014 Abstract Motivation : The development of cost-effective next-generation sequencing methods has spurred the development of high-throughput bioinformatics tools for detection of sequence variation. With many disparate variant-calling algorithms available, investigators must ask, ‘Which method is best for my data?’ Machine learning research
Ravi K. Madduri +10 more
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Вавиловский журнал генетики и селекции, 2017 The TRPM8 gene encodes the cold-activated receptor TRPM8, which has an important role in cold adaptation as well as in metabolic and immune responses. Previously, it has been found that polymorphic variants of the TRPM8 gene, which are present in human ...
B. A. Malyarchuk, M. V. Derenko
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Bioinformatics Interpretation of Exome Sequencing: Blood Cancer [PDF]
Genomics & Informatics, 2013 We had analyzed 10 exome sequencing data and single nucleotide polymorphism chips for blood cancer provided by the PGM21 (The National Project for Personalized Genomic Medicine) Award program. We had removed sample G06 because the pair is not correct and
Jiwoong Kim, Yun-Gyeong Lee, Namshin Kim
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Frontiers in Plant Science, 2022 Induced mutagenesis is a powerful approach for the creation of novel germplasm and the improvement of agronomic traits. The evaluation of mutagenic effects and functional variations in crops is needed for breeding mutant strains.
Yuting Li +12 more
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Bridging the gap: Multi‐stakeholder perspectives of molecular diagnostics in oncology
Molecular Oncology, EarlyView.Although molecular diagnostics is transforming cancer care, implementing novel technologies remains challenging. This study identifies unmet needs and technology requirements through a two‐step stakeholder involvement. Liquid biopsies for monitoring applications and predictive biomarker testing emerge as key unmet needs. Technology requirements vary by
Jorine Arnouts +8 more
wiley +1 more source