Association of Somatic ATP2A2 Damaging Variants With Grover Disease.
Sign Up to like & getrecommendations! Published in 2023 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2023.1139
Abstract: Importance Grover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney failure, and organ transplantation. The pathobiology of GD remains unknown. Objective To determine if… read more here.
Keywords: somatic atp2a2; disease; atp2a2 snvs; grover disease ... See more keywords
M103 WHOLE GENOME SEQUENCING APPROACH TO IDENTIFY SUSCEPTIBILITY RARE VARIANTS IN A MULTIPLEX NUCLEAR FAMILY OF SCHIZOPHRENIA AND FOLLOW-UP RESEQUENCING
Sign Up to like & getrecommendations! Published in 2019 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2017.08.410
Abstract: Background Previous family, twins, and adoption studies have indicated substantial genetic contribution to schizophrenia. With the advent of Next-Generation Sequencing (NGS), a massively parallel throughput method that can sequence the whole human genome, it becomes… read more here.
Keywords: schizophrenia; snvs; whole genome; inheritance ... See more keywords
Identification of genetic features associated with fine particulate matter (PM2.5) modulated DNA damage using improved random forest analysis.
Sign Up to like & getrecommendations! Published in 2020 at "Gene"
DOI: 10.1016/j.gene.2020.144570
Abstract: Recent studies have found multiple single nucleotide variants (SNVs) associated with DNA damage. However, previous association analysis may ignore the potential interaction effects between SNVs. Therefore, we used an improved random forest (RF) analysis to… read more here.
Keywords: dna damage; snvs; associated dna; analysis ... See more keywords
P4411Analysis of cardiometabolic traits highlights shared biological pathways
Sign Up to like & getrecommendations! Published in 2019 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehz745.0815
Abstract: Genome-wide association studies (GWAS) have contributed to a major leap forward in the unravelling of the genetic basis of complex disorders, and identified over 900 genetic loci for blood pressure (BP) regulation, 160 for coronary… read more here.
Keywords: risk; snvs; t2d; nine snvs ... See more keywords
Genetic variations in the human severe acute respiratory syndrome coronavirus receptor ACE2 and serine protease TMPRSS2
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Pathology"
DOI: 10.1136/jclinpath-2020-206867
Abstract: Aims The recent emergence of novel, pathogenic severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) poses a global health emergency. The coronaviral entry requires the spike (S)-protein for attachment to the host cell surface, and employs… read more here.
Keywords: respiratory syndrome; severe acute; snvs; syndrome coronavirus ... See more keywords
Rare Single-Nucleotide Variants that Impact Human ENaC Function
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DOI: 10.1152/physiol.2023.38.s1.5733424
Abstract: While single-nucleotide variants (SNV) in ENaC coding region occur throughout functional domains, only a few SNVs exhibit pathophysiological phenotypes with mendelian inheritance. Since a SNV that alters ENaC’s ability to sense extracellular Na⁺ has been… read more here.
Keywords: function; enac; single nucleotide; physiology ... See more keywords
Abstract 5296: R2D2: An integrated analysis framework to infer the functional impact of single nucleotide variants (SNVs) using matched germline and tumor DNA and RNA sequencing data
Sign Up to like & getrecommendations! Published in 2018 at "Cancer Research"
DOI: 10.1158/1538-7445.am2018-5296
Abstract: Introduction: Single nucleotide variants (SNVs) are the most abundant genetic variation in the human genome. Unlike protein-truncating alterations, the functional impact of SNVs can be very difficult to infer from DNA sequencing alone. Although functional… read more here.
Keywords: functional impact; snvs; dna rna; r2d2 ... See more keywords
SNV discovery and functional candidate gene identification for milk composition based on whole genome resequencing of Holstein bulls with extremely high and low breeding values
Sign Up to like & getrecommendations! Published in 2019 at "PLoS ONE"
DOI: 10.1371/journal.pone.0220629
Abstract: We have sequenced the whole genomes of eight proven Holstein bulls from the four half-sib or full-sib families with extremely high and low estimated breeding values (EBV) for milk protein percentage (PP) and fat percentage… read more here.
Keywords: milk; snvs; breeding; high low ... See more keywords