Results 11 to 20 of about 193,929 (313)
A decade with whole exome sequencing in haematology [PDF]
British Journal of Haematology, 2019 SummaryThe first decade of capture‐based targeted whole exome sequencing (WES) has now passed, while the sequencing modality continues to find more widespread usage in clinical research laboratories and still offers an unprecedented diagnostic assay in terms of throughput, informational content and running costs.
Marcus C. Hansen +2 more
openaire +4 more sources
Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes [PDF]
Brazilian Oral Research, 2023 The genetic basis of oral epithelial (OED) is unknown, and there is no reliable method for evaluating the risk of malignant transformation. Somatic mutations are responsible for the transformation of dysplastic mucosa to invasive cancer.
Daniela ADORNO-FARIAS +6 more
doaj +1 more source
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 L. Vora
openaire +3 more sources
Phenotypic continuum of NFU1‐related disorders
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 2025-2035, December 2022., 2022 Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra‐rare bi‐allelic NFU1 missense variants associated with a
Rauan Kaiyrzhanov +45 more
wiley +1 more source
Frontiers in Genetics, 2020 Background: Both whole exome sequencing and copy number variants sequencing were applied to identify the genetic cause of rare pediatric disorders.
Xuyun Hu +17 more
doaj +1 more source
Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022 Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han +5 more
wiley +1 more source
The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile
Annals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1941-1952, December 2022., 2022 Abstract Objective The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement.
Michelle M. Lee +16 more
wiley +1 more source
Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project. [PDF]
PLoS ONE, 2014 Next-generation genotyping microarrays have been designed with insights from large-scale sequencing of exomes and whole genomes. The exome genotyping arrays promise to query the functional regions of the human genome at a fraction of the sequencing cost,
Erwin Tantoso +7 more
doaj +1 more source
Impact of Concurrency on the Performance of a Whole Exome Sequencing Pipeline [PDF]
BMC Bioinformatics, 2020 Abstract Background: Current high-throughput technologies - i.e. Whole Genome Sequencing (WGS), RNA-Seq, ChIP-Seq, etc. - generate huge amounts of data and their usage gets more widespread with each passing year. Complex analysis pipelines involving several computationally-intensive steps have to be applied on an increasing number of samples ...
Dall’Olio, Daniele +6 more
openaire +5 more sources
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Nature Communications, 2020 With the generation of large pan-cancer whole-exome and whole-genome sequencing projects, a question remains about how comparable these datasets are. Here, using The Cancer Genome Atlas samples analysed as part of the Pan-Cancer Analysis of Whole Genomes
Matthew H. Bailey +20 more
doaj +1 more source