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| http://dx.doi.org/10.1136/jmg.2004.020172 | DOI Listing |
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Developmental validation of a novel all-in one assay of X chromosomal multi-insertion/deletion loci for forensic genetics.
Sci Rep
December 2024
Department of Forensic Medicine, Guizhou Medical University, Guiyang, 550025, China.
Multi-insertion/deletion polymorphisms (Multi-InDels), as the novel genetic markers, show great potential in forensic research. Whereas, forensic researchers mainly focus on the multi-InDels on the autosomes, which can provide relatively limited information in some complex paternity cases. In this study, a novel X chromosomal multi-InDel multiplex amplification system was designed, containing 22 multi-InDels and one STR locus on the X chromosome.
View Article and Find Full Text PDFCharacterization of nuclear microsatellites in (liverwort) with additional trans-specific analyses.
Biotechniques
December 2024
Department of Biology, Montclair State University, Montclair, NJ, USA.
Microsatellites are present in mitochondria, chloroplast, and nuclear DNA, but nuclear microsatellites are more useful genetic tools than those in plastids or mitochondria. Plastid and mitochondrial microsatellites have been identified in the model plant (liverwort), but no laboratory has published information on nuclear microsatellite loci. The aim of this study was to detect novel nuclear markers in the most commonly employed liverwort species, design PCR primers that would allow amplification, and characterize the subsequently generated loci.
View Article and Find Full Text PDFSystematic assessment of COVID-19 host genetics using whole genome sequencing data.
PLoS Pathog
December 2024
Institute of Human Genetics, School of Medicine, University Bonn & University Hospital Bonn, Bonn, Germany.
Courses of SARS-CoV-2 infections are highly variable, ranging from asymptomatic to lethal COVID-19. Though research has shown that host genetic factors contribute to this variability, cohort-based joint analyses of variants from the entire allelic spectrum in individuals with confirmed SARS-CoV-2 infections are still lacking. Here, we present the results of whole genome sequencing in 1,220 mainly vaccine-naïve individuals with confirmed SARS-CoV-2 infection, including 827 hospitalized COVID-19 cases.
View Article and Find Full Text PDFMolecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Eur J Med Genet
December 2024
Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
View Article and Find Full Text PDFThe Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.
Ann Neurol
December 2024
Department of Neurology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
Objective: Variants in PRKN and PINK1 are the leading cause of early-onset autosomal recessive Parkinson's disease, yet many cases remain genetically unresolved. We previously identified a 7 megabases complex structural variant in a pair of monozygotic twins using Oxford Nanopore Technologies (ONT) long-read sequencing. This study aims to determine if ONT long-read sequencing can detect a second variant in other unresolved early-onset Parkinson's disease (EOPD) cases with 1 heterozygous PRKN or PINK1 variant.
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