Results 41 to 50 of about 127,668 (260)
Platelets, 2021 Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome‐related organelles. Ten genes are associated with different forms of HPS.
Vincent Michaud +8 more
doaj +1 more source
On optimal pooling designs to identify rare variants through massive resequencing [PDF]
Genetic Epidemiology, 2011 The advent of next-generation sequencing technologies has facilitated the detection of rare variants. Despite the significant cost reduction, sequencing cost is still high for large-scale studies. In this article, we examine DNA pooling as a cost-effective strategy for rare variant detection.
Lee, Joon Sang +4 more
openaire +2 more sources
SARS-CoV-2 Quasispecies Provides an Advantage Mutation Pool for the Epidemic Variants [PDF]
Microbiology Spectrum, 2021 RNA virus population in a host does not consist of a consensus single haplotype but rather an ensemble of related sequences termed quasispecies. The dynamics of quasispecies afford SARS-CoV-2 a great ability on genetic fitness during intrahost evolution.
Fengming Sun +15 more
openaire +3 more sources
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants ‘bad’?
Endocrine Oncology, 2023 Mutations that predispose to familial pheochromocytoma and paraganglioma include inherited variants in the four genes (SDHA, SDHB, SDHC and SDHD) encoding subunits of succinate dehydrogenase (SDH), an enzyme of the mitochondrial tricarboxylic acid cycle ...
Lucinda M Gruber +2 more
doaj +1 more source
Design and Statistical Analysis of Pooled Next Generation Sequencing for Rare Variants [PDF]
Journal of Probability and Statistics, 2012 Next generation sequencing (NGS) is a revolutionary technology for biomedical research. One highly cost-efficient application of NGS is to detect disease association based on pooled DNA samples. However, several key issues need to be addressed for pooled NGS.
Tao Wang +4 more
openaire +2 more sources
npj Digital Medicine, 2022 IDentif.AI-x, a clinically actionable artificial intelligence platform, was used to rapidly pinpoint and prioritize optimal combination therapies against COVID-19 by pairing a prospective, experimental validation of multi-drug efficacy on a SARS-CoV-2 ...
Agata Blasiak +20 more
doaj +1 more source
Negative feedback buffers effects of regulatory variants
Molecular Systems Biology, 2015 Mechanisms conferring robustness against regulatory variants have been controversial. Previous studies suggested widespread buffering of RNA misexpression on protein levels during translation.
Daniel M Bader +6 more
doaj +1 more source
A pooling-based approach to mapping genetic variants associated with DNA methylation [PDF]
Genome Research, 2015 ABSTRACT DNA methylation is an epigenetic modification that plays a key role in gene regulation. Previous studies have investigated its genetic basis by mapping genetic variants that are associated with DNA methylation at specific sites, but these have been limited to microarrays that cover less than 2% of the genome and cannot account ...
Kaplow, Irene Miriam +5 more
openaire +2 more sources
Annotation of the Protein Coding Regions of the Equine Genome. [PDF]
PLoS ONE, 2015 Current gene annotation of the horse genome is largely derived from in silico predictions and cross-species alignments. Only a small number of genes are annotated based on equine EST and mRNA sequences. To expand the number of equine genes annotated from
Matthew S Hestand +6 more
doaj +1 more source
Biomedicines, 2023 Next-generation sequencing (NGS) tools have importantly helped the classification of myelodysplastic syndromes (MDS), guiding the management of patients.
Oriol Calvete +6 more
doaj +1 more source