Results 11 to 20 of about 5,783,756 (283)
Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads [PDF]
iScience, 2019 Summary: Linked-read sequencing enables greatly improves haplotype assembly over standard paired-end analysis. The detection of mosaic single-nucleotide variants benefits from haplotype assembly when the model is informed by the mapping between ...
Charlotte A. Darby +13 more
doaj +5 more sources
Monovar: single-nucleotide variant detection in single cells [PDF]
Nature Methods, 2016 Current variant callers are not suitable for single-cell DNA sequencing, as they do not account for allelic dropout, false-positive errors and coverage nonuniformity.
Zafar, Hamim +9 more
core +4 more sources
Quantifying single nucleotide variant detection sensitivity in exome sequencing [PDF]
BMC Bioinformatics, 2013 BACKGROUND: The targeted capture and sequencing of genomic regions has rapidlydemonstrated its utility in genetic studies. Inherent in this technology isconsiderable heterogeneity of target coverage and this is expected tosystematically impact our ...
Taylor, Martin S.; id_orcid +8 more
core +4 more sources
A framework for the estimation of the proportion of true discoveries in single nucleotide variant detection studies for human data. [PDF]
PLoS ONE, 2018 Any single nucleotide variant detection study could benefit from a fast and cheap method of measuring the quality of variant call list. It is advantageous to be able to see how the call list quality is affected by different variant filtering thresholds ...
Nik Tuzov
doaj +2 more sources
CardiogeneticsIntroduction: This paper explores the potential influence of a single nucleotide variant in the ANK-2 gene on COVID-19 myocarditis-related ventricular tachycardia.
Erin Haase +4 more
doaj +2 more sources
Cell Reports, 2017 Summary: A number of mitochondrial diseases arise from single-nucleotide variant (SNV) accumulation in multiple mitochondria. Here, we present a method for identification of variants present at the single-mitochondrion level in individual mouse and human
Jacqueline Morris +16 more
doaj +2 more sources
Control-independent mosaic single nucleotide variant detection with DeepMosaic. [PDF]
Nat Biotechnol, 2023 Mosaic variants (MVs) reflect mutagenic processes during embryonic development and environmental exposure, accumulate with aging and underlie diseases such as cancer and autism. The detection of noncancer MVs has been computationally challenging due to the sparse representation of nonclonally expanded MVs. Here we present DeepMosaic, combining an image-
Yang X +17 more
europepmc +5 more sources
Sources of Cancer Neoantigens beyond Single-Nucleotide Variants
International Journal of Molecular Sciences, 2022 The success of checkpoint blockade therapy against cancer has unequivocally shown that cancer cells can be effectively recognized by the immune system and eliminated. However, the identity of the cancer antigens that elicit protective immunity remains to be fully explored.
Aude-Hélène Capietto +2 more
openaire +2 more sources
Single-nucleotide variant calling in single-cell sequencing data with Monopogen. [PDF]
Nat Biotechnol, 2023 Abstract Single-cell omics technologies enable molecular characterization of diverse cell types and states, but how the resulting transcriptional and epigenetic profiles depend on the cell’s genetic background remains understudied. We describe Monopogen, a computational tool to detect single-nucleotide variants (SNVs) from single-cell
Dou J +17 more
europepmc +5 more sources
mtDNA Single-Nucleotide Variants Associated with Type 2 Diabetes
Current Issues in Molecular Biology, 2023 Type 2 diabetes (T2D) is a chronic systemic disease with a complex etiology, characterized by insulin resistance and mitochondrial dysfunction in various cell tissues. To explore this relationship, we conducted a secondary analysis of complete mtDNA sequences from 1261 T2D patients and 1105 control individuals.
Enrique Garcia-Gaona +18 more
openaire +3 more sources