Results 41 to 50 of about 1,176,096 (345)
Genotyping structural variants in pangenome graphs using the vg toolkit
Genome Biology, 2019 Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means for leveraging SV catalogs ...
G. Hickey +9 more
semanticscholar +1 more source
Priors for Genotyping Polyploids [PDF]
Bioinformatics, 2019 AbstractMotivationEmpirical Bayes techniques to genotype polyploid organisms usually either (i) assume technical artifacts are knowna priorior (ii) estimate technical artifacts simultaneously with the prior genotype distribution. Case (i) is unappealing as it places the onus on the researcher to estimate these artifacts, or to ensure that there are no ...
Gerard, David +1 more
openaire +4 more sources
Indonesian Journal of Biotechnology, 2022 Rs1948 A>G is a single nucleotide variation (SNV) in the 3’‐UTR of CHRNB4. Genotyping the synonymous CHRNB4 rs1948 may be useful in identifying a lung cancer susceptibility gene.
Anggi Laksmita Dewi +2 more
doaj +1 more source
A comparison of genotyping arrays [PDF]
European Journal of Human Genetics, 2021 AbstractArray technology to genotype single-nucleotide variants (SNVs) is widely used in genome-wide association studies (GWAS), clinical diagnostics, and linkage studies. Arrays have undergone a tremendous growth in both number and content over recent years making a comprehensive comparison all the more important. We have compared 28 genotyping arrays
Joost A. M. Verlouw +13 more
openaire +4 more sources
Nature Communications, 2018 Association between variants in 11 different genes and breast cancer risk has been established and sequencing of these genes is recommended to provide personalized diagnosis, therapy, and surveillance for the high-risk patients and their relatives.
Yukihide Momozawa +14 more
doaj +1 more source
Genotyping—From Genomic DNA to Genotype in a Single Tube [PDF]
Angewandte Chemie International Edition, 2005 AbstractNucleotide variations in the human genome, such as single‐nucleotide polymorphisms, have been researched more intensively since it became apparent that these deviations are linked to various diseases and also several side effects of drugs. The investigation of genomic DNA in the laboratory requires routine methods that are time‐, labour‐, and ...
Strerath, Michael, Marx, Andreas
openaire +4 more sources
Food Technology and Biotechnology, 2017 The orzo Agordino is a very old local variety of domesticated barley (Hordeum vulgare ssp. distichum L.) that is native to the Agordo District, Province of Belluno, and is widespread in the Veneto Region, Italy. Seeds of this landrace are widely used for
Fabio Palumbo +2 more
doaj +1 more source
False-Positive Plasma Genotyping Due to Clonal Hematopoiesis
Clinical Cancer Research, 2018 Purpose: Plasma cell-free DNA (cfDNA) genotyping is increasingly used in cancer care, but assay accuracy has been debated. Because most cfDNA is derived from peripheral blood cells (PBC), we hypothesized that nonmalignant mutations harbored by ...
Yuebi Hu +11 more
semanticscholar +1 more source
Single nucleotide recognition using a probes-on-carrier DNA chip
BioTechniques, 2019 Following the sequencing of the human genome, SNP analysis of individual patients has become essential for achieving the best drug response and ensuring optimal care.
Satoshi Fuke +2 more
doaj +1 more source
Clinical Cancer Research, 2018 Purpose: To analytically and clinically validate a circulating cell-free tumor DNA sequencing test for comprehensive tumor genotyping and demonstrate its clinical feasibility.
J. Odegaard +18 more
semanticscholar +1 more source