Results 41 to 50 of about 122,799 (164)
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
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
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
Identifying Rare Variants With Optimal Depth of Coverage and Cost‐Effective Overlapping Pool Sequencing [PDF]
Genetic Epidemiology, 2013 ABSTRACTGenome‐wide association studies have identified hundreds of genetic variants associated with complex diseases although most variants identified so far explain only a small proportion of heritability, suggesting that rare variants are responsible for missing heritability.
Chang-Chang, Cao +4 more
openaire +2 more sources
A statistical method for the detection of variants from next-generation resequencing of DNA pools [PDF]
Bioinformatics, 2010 Abstract Motivation: Next-generation sequencing technologies have enabled the sequencing of several human genomes in their entirety. However, the routine resequencing of complete genomes remains infeasible. The massive capacity of next-generation sequencers can be harnessed for sequencing specific genomic regions in hundreds to thousands
Vikas, Bansal +2 more
openaire +4 more sources
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
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
A pooled investigation of Toll-like receptor gene variants and risk of non-Hodgkin lymphoma [PDF]
Carcinogenesis, 2008 Toll-like receptors (TLRs) may influence the development of non-Hodgkin lymphoma (NHL) given their important roles in recognizing microbial pathogens and stimulating multiple immune pathways. We conducted an investigation of TLR gene variants in a pooled analysis including three population-based case-control studies of NHL (1946 cases and 1808 controls)
Mark P, Purdue +22 more
openaire +2 more sources
Proceedings of the National Academy of Sciences, 2023 Single-cell RNA-seq (scRNA-seq) analysis of multiple samples separately can be costly and lead to batch effects. Exogenous barcodes or genome-wide RNA mutations can be used to demultiplex pooled scRNA-seq data, but they are experimentally or computationally challenging and limited in scope.
Xinrui Lin +12 more
openaire +2 more sources