Results 61 to 70 of about 125,953 (296)
Unraveling LINE‐1 retrotransposition in head and neck squamous cell carcinoma
Molecular Oncology, EarlyView.The novel RetroTest method allows the detection of L1 activation in clinical samples with low DNA input, providing global L1 activity and the identification of the L1 source element. We applied RetroTest to a real‐world cohort of HNSCC patients where we reported an early L1 activation, with more than 60% of T1 patients showing L1 activity.
Jenifer Brea‐Iglesias +12 more
wiley +1 more source
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 ...
openaire +3 more sources
Exome Sequencing and the Management of Neurometabolic Disorders [PDF]
New England Journal of Medicine, 2016 Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features ...
Lin Hua Zhang +65 more
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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
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 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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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Favoriser l'autonomie du patient face aux données additionnelles en médecine génomique
Canadian Journal of Bioethics, 2019 Depuis ces dernières années, nous assistons à une révolution technologique en génétique moléculaire avec l’avènement du séquençage de nouvelle génération (NGS).
Guillaume Durand +2 more
doaj +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Exome Sequencing in Clinical Hepatology
Hepatology, 2019 The clinical relevance of the Human Genome Project and next‐generation sequencing technology was demonstrated for the first time in 2009, when whole‐exome sequencing (WES) provided the definitive diagnosis of congenital chloride diarrhea in an infant with presumed renal salt‐wasting disease. Over the past decade, numerous studies have shown the utility
Silvia Vilarinho, Pramod K. Mistry
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