Results 51 to 60 of about 823,839 (283)
PLoS ONE, 2022 The UK Biobank genotyped about 500k participants using Applied Biosystems Axiom microarrays. Participants were subsequently sequenced by the UK Biobank Exome Sequencing Consortium. Axiom genotyping was highly accurate in comparison to sequencing results,
Orna Mizrahi-Man +10 more
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Exome sequencing: a transformative technology [PDF]
The Lancet Neurology, 2011 Much basic research into disease mechanisms has made use of genetic findings to model and understand aetiology. Broad success has been achieved in finding disease-linked mutations with traditional positional cloning approaches; however, because of the requirements of this method, these successes have been limited by the availability of large, well ...
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Obstetrics and Gynecology Clinics of North America, 2018 Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which would then improve the ability to counsel families. It is also often the first step in improving the path toward informed diagnosis and treatment, which is especially important in the ...
Angie C, Jelin, Neeta, Vora
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Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma [PDF]
Endocrinology and Metabolism, 2020 Background Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients.
Soo Hyun Seo +9 more
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Expressed exome capture sequencing: A method for cost‐effective exome sequencing for all organisms
Molecular Ecology Resources, 2018 Abstract Exome capture is an effective tool for surveying the genome for loci under selection. However, traditional methods require annotated genomic resources. Here, we present a method for creating cDNA probes from expressed mRNA ...
Jonathan B. Puritz, Katie E. Lotterhos
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Pediatric Blood &Cancer, EarlyView.ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho +6 more
wiley +1 more source
PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING
Рациональная фармакотерапия в кардиологии, 2015 Aim. To study what cardiac drugs currently have any comments on biomarkers and what information can be obtained by pharmacogenetic testing using data exome sequencing in patients with cardiac diseases.Material and methods.
N. V. Shcherbakova +5 more
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Acta Dermato-Venereologica, 2018 Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses.
Vamsi K. Yenamandra +11 more
doaj +1 more source
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Nature Communications, 2023 The short lengths of short-read sequencing reads challenge the analysis of paralogous genomic regions in exome and genome sequencing data. Most genetic variants within these homologous regions therefore remain unidentified in standard analyses.
Wouter Steyaert +12 more
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Molecular Oncology, EarlyView.This study shows that lung adenocarcinomas exploit developmental branching morphogenesis to acquire a therapy resistant basal‐like tumour cell state. This process was found to be regulated by combined TP53 loss‐of‐function and type‐I interferon signalling, identifying a novel axis for biomarker and therapeutic target discovery.
Kamila J Bienkowska +13 more
wiley +1 more source