Results 41 to 50 of about 215,208 (174)
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Journal of Medical Case Reports, 2023 Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala +4 more
doaj +1 more source
Sparse group factor analysis for biclustering of multiple data sources [PDF]
Bioinformatics Volume 32, Issue 16 Pp. 2457-2463, 2016, 2015 Motivation: Modelling methods that find structure in data are necessary with the current large volumes of genomic data, and there have been various efforts to find subsets of genes exhibiting consistent patterns over subsets of treatments. These biclustering techniques have focused on one data source, often gene expression data.
arxiv +1 more source
Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies
BMC Pregnancy and ChildbirthBackground Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice.
Pengzhen Jin +5 more
doaj +1 more source
Dynamical System Modeling to Simulate Donor T Cell Response to Whole Exome Sequencing-Derived Recipient Peptides Demonstrates Different Alloreactivity Potential In HLA-Matched and Mismatched Donor-Recipient Pairs [PDF]
arXiv, 2015 Stem cell transplants may be considered as dynamical systems to allow sequence differences across the exomes of the transplant donors and recipients to be used to simulate an alloreactive T cell response. Whole exome sequencing was performed on HLA matched stem cell transplant donor-recipient pairs, and the nucleotide sequence differences translated to
arxiv
BMC Medical GenomicsNext-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders.
Tahir Atik +8 more
doaj +1 more source
Whole Exome Sequencing in Atrial Fibrillation.
PLoS Genetics, 2016 Atrial fibrillation (AF) is a morbid and heritable arrhythmia. Over 35 genes have been reported to underlie AF, most of which were described in small candidate gene association studies. Replication remains lacking for most, and therefore the contribution
Steven A Lubitz +24 more
doaj +1 more source
Molecular Genetics & Genomic Medicine, 2023 Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder.
Jianlong Zhuang +7 more
doaj +1 more source
Whole Exome Sequencing to Estimate Alloreactivity Potential Between Donors and Recipients in Stem Cell Transplantation [PDF]
arXiv, 2014 Whole exome sequencing was performed on HLA-matched stem cell donors and transplant recipients to measure sequence variation contributing to minor histocompatibility antigen differences between the two. A large number of nonsynonymous single nucleotide polymorphisms were identified in each of the nine unique donor-recipient pairs tested. This variation
arxiv
Computational Performance of a Germline Variant Calling Pipeline for Next Generation Sequencing [PDF]
arXiv, 2020 With the booming of next generation sequencing technology and its implementation in clinical practice and life science research, the need for faster and more efficient data analysis methods becomes pressing in the field of sequencing. Here we report on the evaluation of an optimized germline mutation calling pipeline, HummingBird, by assessing its ...
arxiv
npj Genomic Medicine, 2021 Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridization array ...
Francisco Martinez-Granero +14 more
doaj +1 more source