bioRxiv Genetics
@biorxiv_genetic
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Joined June 2016
Hybridization Reveals Cell Type-Specific Regulatory Variation Driving Brain Transcriptomic Divergence https://t.co/vGRdhq3tEE
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Gene expression is a molecular trait that can cumulatively contribute to more complex phenotypes. Interspecies hybrids have long been used to study the genetics basis of molecular, morphological and...
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The shared genomic history of Middle to Late Holocene Southern Cone populations https://t.co/O4t3tgNM5O
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The Southern Cone represents the southernmost region of South America to be colonized by humans. Although ancient genomes have been sequenced from southern Patagonia, genomic data from the central...
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Variants in Cas9 and nanos regulatory elements modulate activity and reduce resistance allele formation in homing gene drive https://t.co/wo8cTeF6PD
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Gene drive is a novel approach for controlling vector borne disease via either population modification or suppression. Even with high efficiency, though, overall drive performance can be reduced by...
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Daily and Weekly Fluctuations in the Microbiome of the Urinary Tract of Postmenopausal Women with No History of Urinary Tract Infections https://t.co/ourVzz6jT2
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At least half of all women will experience a urinary tract infection (UTI) in their lifetime. Age, sexual activity, hormonal status, and the urinary tract microbiome (urobiome) contribute to the...
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DYRK1A ortholog mbk-1 knockout in Caenorhabditis elegans as a tool for genetics research of developmental disorders https://t.co/X5FjNL8Q3J
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Dual-specificity tyrosine phosphorylation-regulated kinase 1A ( DYRK1A ) is a dosage sensitive gene located on human chromosome 21 (Hsa21) that contributes to phenotypes associated with developmental...
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Flexibly Modeling Rare Variant Pathogenicity Improves Gene Discovery for Complex Traits https://t.co/r9mooTqEAP
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Rare variant burden tests can directly identify genes that influence complex traits, but their power is limited by our ability to separate functional from benign alleles. We introduce FlexRV, an...
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Simulated sample splitting approach to address biases due to instrument selection and participant overlap in two-sample Mendelian ... https://t.co/fZoeo6QCQN
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Mendelian randomization (MR) is a popular statistical technique that uses genetic variants to explore causal relationships in observational epidemiology. Summary-level MR, the most common form,...
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The dominance of gene expression controlled by trans-eQTL hotspots contributes to phenotypic heterosis in maize https://t.co/PKsplzlggF
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Heterosis, or hybrid vigor, is a key phenomenon in genetics research and agricultural production, and has been primarily attributed to non-additive genetic effects such as dominance — a prevailing...
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Genomic prediction for general combining ability in hybrid canola (Brassica napa L.) https://t.co/0c1y45M9Mo
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Hybrid breeding is a method of selecting parental lines and determining crosses that are likely to yield the best hybrids. Genomic prediction (GP), a tool that uses genome wide markers, can be...
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Disruption of ADAMTSL4 Causes Ectopia Pupillae in Zebrafish via COL8A1-Driven Cell Migration https://t.co/l4bkEcpFmJ
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Congenital ectopia lentis (EL) threatens visual outcomes in children. To clarify the role of ADAMTSL4, we analyzed 702 pedigrees and identified pathogenic variants in 23 probands (3.28%), including...
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BAP1 deletion in hepatocytes primes an inflammatory transcriptional response https://t.co/7Hl0BseCqd
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Background: BRCA1-associated protein 1 (BAP1) is a deubiquitinase, frequently altered in cancers including hepatocellular carcinoma and cholangiocarcinoma. While Bap1 has been shown to play key roles...
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Fission yeast histone chaperone Rtt106 regulates histone levels, prevents early division, and promotes genome stability https://t.co/XimYDL57Ti
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Chromatin packaging influences gene expression and is linked to genome stability through the establishment and maintenance of histone modifications. Histone chaperone proteins regulate chromatin...
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Genomic Prediction and SNP Importance Analysis for Agronomic Traits in Two Coffea canephora Populations https://t.co/CbSi10OLIM
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This study used single-SNP association analysis and machine learning to investigate the genetic basis of three agronomic traits, including coffee bean production, leaf rust incidence, and green bean...
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Phage display-mediated immuno-PCR to detect low-abundance secreted proteins in Drosophila https://t.co/224Qw13PNS
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Circulating hormones, that mediate communications across organs to maintain physiological balance, are commonly detected and quantified using enzyme-linked immunosorbent assays (ELISAs). However,...
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Reinforcement of speciation by behavioural and reproductive barriers in the Drosophila bipectinata species complex https://t.co/EkHoMm3Vl7
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Speciation mainly depends on different mechanisms involved in reproductive isolation; Understanding such barriers that consistently develop to avoid the fitness cost through reinforcement until the...
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Cohesin Acetylation and ATPase Activity Control Cohesion and Loop Architecture through Distinct Mechanisms https://t.co/qXHxO54UW8
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Cohesin is a conserved protein complex that mediates sister chromatid cohesion, chromosome condensation, gene regulation, and DNA repair. These processes rely on cohesin's ability to tether sister...
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ADAR RNA editing for cardiovascular disease: Targeting B4GALT1 to modulate lipid metabolism through reduced galactosyltransferase ... https://t.co/1fh9NGqSWm
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Cardiovascular disease remains a leading cause of mortality despite current therapies targeting low-density lipoprotein cholesterol (LDL-C). Beta-1,4-galactosyltransferase 1 (B4GALT1), a central...
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When splicing is not all or none: Implications for variant classification https://t.co/WGhnL61mt3
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Variants with intermediate functional effects—those that neither abolish nor fully preserve gene function—constitute an underappreciated source of genetic complexity and a grey zone for classificat...
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Are mitochondrial DNA mutations under purifying selection in somatic tissues? https://t.co/vvENRyAGQW
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The extent to which somatic mitochondrial DNA (mtDNA) mutations are subject to selection is a fundamental question relevant to development, mitochondrial disease, cancer, and aging. Recently a study...
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Evidence for strong purifying selection of human 47S ribosomal RNA genes https://t.co/rzSSEuwXRA
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The multicopy 47S ribosomal RNA (rRNA) genes are among the most highly expressed genes in the human genome, yet to-date essentially no disease-causing sequence variants have been identified in these...
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