Results 41 to 50 of about 127,509 (268)
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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Whole exome sequencing in the rat [PDF]
BMC Genomics, 2018 The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation. Here, we report development and testing of a probe set for whole exome sequencing (WES) to detect sequence variants in exons and UTRs of the rat genome. Using an in-silico approach,
Julie F. Foley +15 more
openaire +3 more sources
Exome sequencing in Parkinson's disease [PDF]
Clinical Genetics, 2011 Bras JM, Singleton AB. Exome sequencing in Parkinson's disease.Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive.
Jose M, Bras, A B, Singleton
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From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement
Frontiers in Plant Science, 2017 Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
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The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review
Pediatric Blood &Cancer, EarlyView.ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo +5 more
wiley +1 more source
Frontiers in Genetics, 2019 There is a growing attention toward personalized medicine. This is led by a fundamental shift from the ‘one size fits all’ paradigm for treatment of patients with conditions or predisposition to diseases, to one that embraces novel approaches, such as ...
Pawel Suwinski +7 more
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Workflow for the Implementation of Precision Genomics in Healthcare
Frontiers in Genetics, 2020 To enable the implementation of precise genomics in a local healthcare system, we devised a pipeline for filtering and reporting of relevant genetic information to healthy individuals based on exome or genome data.
Sanja Mehandziska +8 more
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Childhood aplastic anemia (AA) is a rare disease, and both the disease itself and its treatment cause significant morbidity. We aimed to determine the contemporary incidence of childhood AA in Finland, to compare the clinical characteristics of AA against inherited bone marrow failure syndromes (IBMFS) and refractory cytopenia of ...
Lauri‐Matti Kulmala +8 more
wiley +1 more source
Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy
Molecular Genetics & Genomic Medicine, 2021 Background Hypertrophic cardiomyopathy (HCM), described as the presence of hypertrophy of left ventricular, is the most prevalent heritable cardiovascular disease with predominantly an autosomal dominant type of inheritance.
Elena V. Filatova +6 more
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Implications of Genomic Newborn Screening for Infant Mortality
International Journal of Neonatal Screening, 2023 Technological advances and decreasing costs of genomic sequencing have paved the way for the increased incorporation of genomics into newborn screening (NBS).
Monica H. Wojcik, Nina B. Gold
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