Advance in Genomics of Rare Genetic Diseases
Biomolecules, 2023 Recent technical breakthroughs in genotyping and bioinformatics techniques have greatly facilitated the translation of genomics into clinical care [...]
Elena Sommariva +2 more
doaj +1 more source
A comparison of BeadChip and WGS genotyping outputs using partial validation by sanger sequencing
BMC Genomics, 2020 Background Head-to-head comparison of BeadChip and WGS/WES genotyping techniques for their precision is far from straightforward. A tool for validation of high-throughput genotyping calls such as Sanger sequencing is neither scalable nor practical for ...
Kirill A. Danilov +3 more
doaj +1 more source
High-resolution genotyping via whole genome hybridizations to microarrays containing long oligonucleotide probes. [PDF]
PLoS ONE, 2010 To date, microarray-based genotyping of large, complex plant genomes has been complicated by the need to perform genome complexity reduction to obtain sufficiently strong hybridization signals. Genome complexity reduction techniques are, however, tedious
Yan Fu +10 more
doaj +1 more source
Validation of a Polymerase Chain Reaction technique for Kidd blood group genotyping [PDF]
, 2015 The Kidd blood group antigens, Jkª and Jkᵇ , are two of the main surface markers which are found on the membrane of red blood cells. The determination of whether a donor or a recipient has the Jkª and/or the Jkᵇ antigens is crucially important to ...
Borg, Joseph J. +2 more
core +1 more source
Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]
, 2011 Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core +1 more source
Performance of pigeonpea genotypes under transplanting technique
Journal of Farm Sciences, 2023 A field experiment was conducted for the yield maximization in pigeonpea through transplanting technique underdryland conditions in medium black soils at Regional Agricultural Research Station, Vijayapura (Karnataka) during kharif2021-22. The experiment was laid out in split plot design with three replications.
B.O. KIRAN +3 more
openaire +1 more source
A genotyping protocol for multiple tissue types from the polyploid tree species Sequoia sempervirens (Cupressaceae). [PDF]
, 2015 Premise of the studyIdentifying clonal lineages in asexually reproducing plants using microsatellite markers is complicated by the possibility of nonidentical genotypes from the same clonal lineage due to somatic mutations, null alleles, and scoring ...
Dodd, Richard S +2 more
core +2 more sources
An Improved Technique for Genotyping the ABCB1 Gene Variant of Exon 21
Methods and Protocols, 2023 The Multidrug Resistance protein (ABCB1, MDR1) is involved in the transport of xenobiotics and antiretroviral drugs. Some variants of the ABCB1 gene are of clinical importance; among them, exon 12 (c.1236C>T, rs1128503), 21 (c.2677G>T/A, rs2032582), and 26 (c.3435C>T, rs1045642) have a high incidence in Caucasians.
Johanna Romina Zuccoli +5 more
openaire +4 more sources
Novel single nucleotide polymorphism-based assay for genotyping Mycobacterium avium subsp. paratuberculosis [PDF]
, 2016 Typing of Mycobacterium avium subspecies paratuberculosis strains presents a challenge, since they are genetically monomorphic and traditional molecular techniques have limited discriminatory power.
Bryant, Josephine +6 more
core +2 more sources
Germline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT [PDF]
, 2020 Background The development of prostate cancer can be influenced by genetic and environmental factors. Numerous germline SNPs influence prostate cancer susceptibility.
Ahmed, M +7 more
core +2 more sources