P097 An HLA typing assay using the illumina NGS system allows for the detection of poorly amplified HLA alleles, virtually eliminating allele dropout
Sign Up to like & getrecommendations! Published in 2017 at "Human Immunology"
DOI: 10.1016/j.humimm.2017.06.157
Abstract: Aim DNA sequencing has long been the gold standard for HLA typing, offering the ability to interrogate each base pair of a targeted region. Sanger sequencing-based typing assays are known to suffer from allele dropout,… read more here.
Keywords: detection; poorly amplified; hla typing; typing assay ... See more keywords
Uncertainty in estimating the number of contributors from simulated DNA mixture profiles, with and without allele dropout, from Chinese, Malay, Indian, and Caucasian ethnic populations
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-84580-4
Abstract: Determining the number of contributors (NOC) accurately in a forensic DNA mixture profile can be challenging. To address this issue, there have been various studies that examined the uncertainty in estimating the NOC in a… read more here.
Keywords: chinese malay; mixture profile; allele dropout; mixture profiles ... See more keywords
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108281
Abstract: Pathogenic variants in the MME gene cause dominant and recessive lateonset axonal hereditary neuropathy, that is, axonal CharcotMarieTooth syndrome (LOCMT2). Here, we report nextgeneration sequencing (NGS) and Sanger sequencing (SS) results of 28 LOCMT2 patients… read more here.
Keywords: online supplemental; mme variants; allele dropout; 467del pro156leufs ... See more keywords