Kinship analysis and allelic dropout: a forensic approach on an archaeological case
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Human Biology"
DOI: 10.1080/03014460.2018.1484159
Abstract: Abstract Background: This study relies on the discovery of two pit burials (LTA and LTB) of the Bronze Age Cogotas I archaeological culture (circa 3600–2950 BP) in Spain. LTA was a single burial and LTB contained… read more here.
Keywords: dropout forensic; dropout; analysis allelic; kinship analysis ... See more keywords
An Asymptomatic Case With MEN1 Slipping Through Genetic Screening by SNV-dependent Allelic Dropout
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the Endocrine Society"
DOI: 10.1210/jendso/bvac118
Abstract: Abstract Context Genetic testing is useful not only for the diagnosis of the MEN1 proband but also for determining the putative asymptomatic variant carriers to improve the prognosis or to avoid unnecessary medical intervention. However,… read more here.
Keywords: men1; case men1; genetic testing; allelic dropout ... See more keywords
Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0336
Abstract: Abstract Objectives Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism. It is mainly caused by a deficiency in phenylalanine hydroxylase (PAH) and frequently diagnosed with Sanger sequencing. To some extent, allelic dropout… read more here.
Keywords: dropout; diagnosis; pah affecting; dropout pah ... See more keywords
Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.620337
Abstract: Primary cardiomyopathies (CMPs) are monogenic but multi-allelic disorders with dozens of genes involved in pathogenesis. The implementation of next-generation sequencing (NGS) approaches has resulted in more time- and cost-efficient DNA diagnostics of cardiomyopathies. However, the… read more here.
Keywords: gene panels; allelic dropout; diagnostic yield; targeted gene ... See more keywords