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Evaluating genome-wide and targeted forensic sequencing approaches to kinship determination.
Forensic Sci Int Genet
January 2025
Department of Genetics, Genomics & Cancer Sciences, University of Leicester, University Road, Leicester, UK. Electronic address:
Kinship determination is a valuable tool in forensic genetics, with applications including familial searching, disaster victim identification, and investigative genetic genealogy. Conventional typing of small numbers of autosomal short tandem repeats (STRs) confidently identifies only first-degree relatives. Massively parallel sequencing (MPS) can access more STRs and resolve alleles identical by length but differing in sequence (isoalleles), which may increase the power of kinship estimation, particularly when combined with additional sequenced single nucleotide polymorphism (SNP) loci, as in the ForenSeq DNA Signature Prep kit.
View Article and Find Full Text PDFDevelopmental 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 PDFLinaclotide Use for the Treatment of Constipation and Gastrointestinal Symptoms in People With Cystic Fibrosis.
Pediatr Pulmonol
January 2025
Department of Pharmacy, University of Utah Health, Salt Lake City, Utah, USA.
Introduction: Cystic Fibrosis (CF) is a multisystem autosomal recessive disease characterized by thick, sticky mucus which causes lung disease, pancreatic insufficiency, and many other manifestations. Constipation is a common complication in CF and few advances in treatment have been made until recent years. Linaclotide is a treatment approved for chronic idiopathic constipation and irritable bowel syndrome with constipation.
View Article and Find Full Text PDFDissecting the genetic admixture and forensic signatures of ethnolinguistically diverse Chinese populations via a 114-plex NGS InDel panel.
BMC Genomics
November 2024
Guangzhou Key Laboratory of Forensic Multi-Omics for Precision Identification, School of Forensic Medicine, Southern Medical University, Guangzhou, China.
Comprehensive characterizations of genetic diversity and demographic models of ethnolinguistically diverse Chinese populations are essential for elucidating their forensic characteristics and evolutionary past. We developed a 114-plex NGS InDel panel to genotype 114 genome-wide markers and investigated the genetic structures of Zhuang, Hui, Miao, Li, Tibetan, Yi, and Mongolian populations, encompassing five language families. This panel demonstrated robust performance, with exceptional potential for forensic individual identification and paternity testing, evidenced by the combined power of discrimination for 77 autosomal InDels (ranged from 1-3.
View Article and Find Full Text PDFPhenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis.
JMIR Res Protoc
November 2024
Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.
Background: Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is a rare lysosomal storage disease characterized by autosomal recessive inheritance of mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. This leads to a deficiency of the GALNS enzyme, causing the accumulation of glycosaminoglycans in tissues. Morquio A syndrome primarily affects the skeletal system and joints but can also impact various organs, resulting in symptoms such as hearing and vision loss, respiratory issues, spinal cord compression, heart diseases, and hepatomegaly.
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