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Atypical HPV Typing: Detection of Genital-Associated HPV Type 6 in Verruca Vulgaris of the Hands and Feet in an HIV-Positive Patient.
Int Med Case Rep J
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Dr. Hasan Sadikin Hospital, Bandung, West Java, Indonesia.
Verruca vulgaris is a cutaneous infection predominantly caused by human papillomavirus (HPV) type 1, 2, and 4. In immunocompromised individuals infected with human immunodeficiency virus (HIV) infection, HPV leads to a higher prevalence of infections and also has a greater likelihood of being infected with atypical types such as genital-associated HPV in extragenital sites. This case report describes a 48-year-old male patient who presented with skin-colored verrucous papules on the hands and feet, with no evidence of genital lesions.
View Article and Find Full Text PDFTrait genetic architecture and population structure determine model selection for genomic prediction in natural Arabidopsis thaliana populations.
Genetics
January 2025
School of BioSciences, The University of Melbourne, Royal Parade, Parkville, VIC 3010, Australia.
Genomic prediction applies to any agro- or ecologically relevant traits, with distinct ontologies and genetic architectures. Selecting the most appropriate model for the distribution of genetic effects and their associated allele frequencies in the training population is crucial. Linear regression models are often preferred for genomic prediction.
View Article and Find Full Text PDFPerspectives and opportunities in forensic human, animal, and plant integrative genomics in the Pangenome era.
Forensic Sci Int
January 2025
Institute of Rare Diseases, West China Hospital of Sichuan University, Sichuan University, Chengdu 610000, China; Center for Archaeological Science, Sichuan University, Chengdu 610000, China; Department of Forensic Medicine, College of Basic Medicine, Chongqing Medical University, Chongqing 400331, China. Electronic address:
The Human Pangenome Reference Consortium, the Chinese Pangenome Consortium, and other plant and animal pangenome projects have announced the completion of pilot work aimed at constructing high-quality, haplotype-resolved reference graph genomes representative of global ethno-linguistically different populations or different plant and animal species. These graph-based, gapless pangenome references, which are enriched in terms of genomic diversity, completeness, and contiguity, have the potential for enhancing long-read sequencing (LRS)-based genomic research, as well as improving mappability and variant genotyping on traditional short-read sequencing platforms. We comprehensively discuss the advancements in pangenome-based genomic integrative genomic discoveries across forensic-related species (humans, animals, and plants) and summarize their applications in variant identification and forensic genomics, epigenetics, transcriptomics, and microbiome research.
View Article and Find Full Text PDFExon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome.
Nephrol Dial Transplant
January 2025
Department of Nephrology, Kidney Transplantation and Dialysis, CHU Lille, University of Lille, Lille, France.
Background And Hypothesis: Unlike X-linked or autosomal recessive Alport Syndrome, no clear genotype/phenotype correlation has yet been demonstrated in patients carrying a single variant of COL4A3 or COL4A4.
Methods: We carried out a multicenter retrospective study to assess the risk factors involved in renal survival in patients presenting a single pathogenic variant on COL4A3 or COL4A4.
Results: 97 patients presenting a single pathogenic variant of COL4A3 or COL4A4 were included.
High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands.
Hum Genomics
January 2025
Department of Endocrine and Metabolic Diseases, Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China.
Background: The molecular genetic diagnosis of congenital adrenal hyperplasia (CAH) is very challenging due to the high homology between the CYP21A2 gene and its pseudogene CYP21A1P.
Methodology: This study aims to assess the clinical efficacy of targeted long-read sequencing (T-LRS) by comparing it with a control method based on the combined assay (NGS, Multiplex ligation-dependent probe amplification and Sanger sequencing) and to introduce T-LRS as a first-tier diagnostic test for suspected CAH patients to improve the precise diagnosis of CAH.
Results: A large cohort of 562 participants including 322 probands and 240 family members was enrolled for the perspective (96 probands) and prospective study (226 probands).
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