... influenced the trajectory of the COVID-19 pandemic. In late 2020, the Alpha variant (Pango lineage B.1.1.7) emerged in South East England, characterized by enhanced transmissibility, increased mortality, and rapid geographic expansion. Here, we studied the evolutionary history and migration dynamics of Alpha...

... to reach 2% variant allele frequency (VAF), the current threshold for CHIP. Nevertheless, reliable detection of low-VAF CHIP mutations is challenging, often relying on deep targeted sequencing. Here, we present UNISOM, a streamlined workflow for enhancing CHIP detection from whole-genome and whole-exome...

... vision, ensuring the correct localization of all-trans-retinal within the visual cycle. Mutations in the ABCA4 gene are responsible for the juvenile maculopathy, Stargardt disease (STGD1). We investigated the most common variant underlying STGD1 phenotype in a rat model carrying...

... the original work is properly cited. For commercial re-use, please contact [email protected] Abstract In post-genome-wide association study era, interpretation of noncoding variants remains a significant challenge due to their complexity and the limited understanding of their functions. Here, we...

... medium, provided the original work is properly cited. For commercial re-use, please contact [email protected] Abstract Accurate prediction of pathogenic variants in human disease-associated genes would have a profound effect on clinical decision-making; however, it remains a significant...

... classification system can be used to correct a gene model for a better evaluation of the pathogenicity of variants found in patients? SUMMARY ANSWER By combining available genomic and transcriptomic data from several species and a quantitative classification framework with primary ovarian insufficiency (POI...

... of Sciences, Engineering and Medicine [ 19 ]. Most PCC studies were conducted before the current Omicron variant era, the widespread uptake of COVID-19 vaccination, or the availability of antiviral pharmacotherapies. The Omicron variant has a lower risk of acute, 30-day hospitalization or death than prior...

... States. E-mail: [email protected] 05 03 2025 15 03 2025 Published by Oxford University Press 2025. 2025 This work is written by (a) US Government employee(s) and is in the public domain in the US. Abstract Purpose Identifying individuals with pathogenic variants for RYR1...

.... Methods We whole-genome sequenced affected and unaffected members of an Italian NMTC family and applied our in-house developed Familial Cancer Variant Prioritization Pipeline (FCVPPv2) which prioritized 12 coding variants. We refined this selection using the VarSome American College of Medical Genetics...

..., Standard Journals Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract The incorporation of histone variants, distinct paralogs of core histones, into chromatin affects all DNA-templated processes in the cell, including the regulation of transcription. In recent...

...Romain Derelle; Kieran Madon; Joel Hellewell; Víctor Rodríguez-Bouza; Nimalan Arinaminpathy; Ajit Lalvani; Nicholas J Croucher; Simon R Harris; John A Lees; Leonid Chindelevitch; Daniel Falush Table 1 Number of variants inferred from the Sta. aureus outbreak dataset by Snippy...

... of the anterior mediastinum. Results DNA variants of NRAS and TP53 were identified in the teratomatous and embryonic components of his tumor. These variants were not identified in benign tissue, indicating their somatic origin. Several copy number variants were detected in both tumor...

... the original work is properly cited. Abstract Motivation: One major challenge of interpreting variants from genome-wide association studies (GWAS) of complex traits or diseases is how to efficiently annotate noncoding variants. These variants influence gene expression by disrupting cis-regulatory...

.... COVID-19 vaccine recommendations provide guidance for adults to receive at least annual variant-targeted vaccination. We sought to estimate the strength and durability of protection from annual variant-targeted vaccination against severe COVID-19 illness in individuals with vaccine-derived and hybrid...

... RightsLink service via the Permissions link on the article page on our site—for further information please contact [email protected]. Abstract Objective Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting...

...://creativecommons.org/licenses/by/4.0/ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. See the journal About page for additional terms. Abstract Context Clinical case–based studies have identified rare pathogenic variants in several...

... deep learning artificial intelligence AI DeepVariant variant calling To demonstrate our approach in a clinical scenario, we sought to showcase the prediction of disease-causing single nucleotide mutations detected in the parents in two families ( Table 2 ). In family TST01, the parents were known...

... for thyroid hormone synthesis. Rare DUOX variations have been detected in patients with congenital hypothyroidism (CH); however, their mode of inheritance and genotype-phenotype correlations remain unclear. Additionally, no study has determined whether common DUOX variants confer a risk...

... pathogenic variant discovered incidentally by genetic testing performed for breast cancer risk stratification in an asymptomatic 24-year-old woman. Subsequent genetic testing identified the same pathogenic variant in her 21-year-old sister, 60-year-old father, and 84-year-old paternal grandmother...

... in the ovary and testis. Genes enclosed in red boxes are known to influence reproductive system phenotypes. infertility mRNA splicing trans-acting factor cis-acting element non-canonical splicing variant splicing variant prediction and validation therapy National Key R&D Program of China 10.13039...