Results 11 to 20 of about 133,224 (273)
Sex bias in Neolithic megalithic burials
American Journal of Biological Anthropology, Volume 180, Issue 1, Page 196-206, January 2023., 2023 Abstract Objectives A statistical study comparing osteological and ancient DNA determinations of sex was conducted in order to investigate whether there are sex biases in United Kingdom and Irish Neolithic megalithic burials. Materials and Methods Genetic and osteological information from human individuals from 32 megalithic sites in the UK and Ireland
Elliot Elliott +4 more
wiley +1 more source
Examination of runs of homozygosity in relation to height in an endogamous Namibian population
American Journal of Biological Anthropology, Volume 180, Issue 1, Page 207-215, January 2023., 2023 Abstract Objectives Height is a complex, highly heritable polygenic trait subject to both genetic composition and environmental influences. Recent studies suggest that a large proportion of height heritability is determined by the cumulative effect of many low allele frequency variants across the genome. Previous research has also identified an inverse
Natalie Swinford +6 more
wiley +1 more source
Whole‐genomic DNA amplifications from individually isolated sweet sorghum microspores
Applications in Plant Sciences, Volume 10, Issue 6, November-December 2022., 2022 Abstract Premise Sorghum is a multi‐use crop, the efficient breeding of which requires the development of new genetic tools. One such tool could be the genetic assessment of free microspores, which are released just after the tetrad stage of pollen development.
Aron M. Felts +3 more
wiley +1 more source
Aquatic Conservation: Marine and Freshwater Ecosystems, Volume 32, Issue 12, Page 1926-1939, December 2022., 2022 Abstract Stellate sturgeon (Acipenser stellatus) is a species of great conservation concern throughout its range. Over the past century, it has experienced a dramatic decline in abundance and distribution in the Black Sea basin. Information regarding the genetic structure of the species is very limited in the region, despite its crucial importance for ...
Daniela Nicoleta Holostenco +16 more
wiley +1 more source
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Minimum error correction-based haplotype assembly: considerations for long read data [PDF]
, 2018 The single nucleotide polymorphism (SNP) is the most widely studied type of genetic variation. A haplotype is defined as the sequence of alleles at SNP sites on each haploid chromosome. Haplotype information is essential in unravelling the genome-phenotype association.
arxiv +1 more source
Human Mutation, Volume 43, Issue 12, Page 1921-1944, December 2022., 2022 Abstract Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3.
Mads Thomassen +49 more
wiley +1 more source
Reliable reconstruction of HIV-1 whole genome haplotypes reveals clonal interference and genetic hitchhiking among immune escape variants [PDF]
Retrovirology, 2014, 11:56, 2013 Following transmission, HIV-1 evolves into a diverse population, and next generation sequencing enables us to detect variants occurring at low frequencies. Studying viral evolution at the level of whole genomes was hitherto not possible because next generation sequencing delivers relatively short reads.
arxiv +1 more source
Destabilization of mutated human PUS3 protein causes intellectual disability
Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022 The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin +17 more
wiley +1 more source
Human Mutation, Volume 43, Issue 12, Page 2170-2186, December 2022., 2022 Abstract The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 are widely used but are not gene specific.
Kathryn P. Burdon +14 more
wiley +1 more source