Search results for "QH426 Genetics"

showing 10 items of 11 documents

Drosophila Evolution over Space and Time (DEST) : A New Population Genomics Resource

2021

Drosophila melanogaster is a leading model in population genetics and genomics, and a growing number of whole-genome datasets from natural populations of this species have been published over the last years. A major challenge is the integration of disparate datasets, often generated using different sequencing technologies and bioinformatic pipelines, which hampers our ability to address questions about the evolution of this species. Here we address these issues by developing a bioinformatics pipeline that maps pooled sequencing (Pool-Seq) reads from D. melanogaster to a hologenome consisting of fly and symbiont genomes and estimates allele frequencies using either a heuristic (PoolSNP) or a…

0106 biological sciencesdrosophilia melanogasterdemographyQH301 BiologyadaptationAcademicSubjects/SCI0118001 natural sciencesGene Frequencymedia_common0303 health sciencesEuropean researchbioinformatiikkaGenomics3rd-DASgenomiikkaNew populationResourcesDrosophila melanogaster; SNPs; adaptation; demography; evolution; population genomicsDrosophila melanogasterpopulaatiogenetiikkaChristian ministryCorrigendumSNPsResource (biology)population genomicsEvolutionevoluutioLibrary scienceQH426 GeneticsBiology010603 evolutionary biology03 medical and health sciencesQH301evolutionGeneticsmedia_common.cataloged_instanceAnimalsEuropean unionAdaptationMolecular BiologyQH426Ecology Evolution Behavior and Systematics030304 developmental biologyDemographyAcademicSubjects/SCI01130banaanikärpänenNISGenetics PopulationComputingMethodologies_PATTERNRECOGNITIONResearch councilMCPperimäMetagenomicsPopulation genomics
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Cold adaptation drives population genomic divergence in the ecological specialist, Drosophila montana

2020

Funding: UK Natural Environment Research Council (Grant Number(s): NE/L501852/1, NE/P000592/1); Academy of Finland (GrantNumber(s): 267244, 268214, 322980), Ella ja Georg Ehrnroothin Säätiö. Detecting signatures of ecological adaptation in comparative genomics is challenging, but analysing population samples with characterised geographic distributions, such as clinal variation, can help identify genes showing covariation with important ecological variation. Here, we analysed patterns of geographic variation in the cold-adapted species Drosophila montana across phenotypes, genotypes and environmental conditions and tested for signatures of cold adaptation in population genomic divergence. We…

0301 basic medicine0106 biological sciencesCandidate geneEcological selectionQH301 Biology01 natural sciencesGenomeDivergencekylmänkestävyysChill coma recovery timeCCRTD. montanamuuntelu (biologia)sopeutuminen0303 health scienceseducation.field_of_studyGEMontanaEcologyGenomicsgenomiikkageneettinen muunteluCline populationsEnvironmental adaptationpopulaatiogenetiikkaDrosophilaGE Environmental SciencesmahlakärpäsetPopulationQH426 GeneticsBiologyCold tolerance010603 evolutionary biology03 medical and health sciencesQH301GeneticsAnimalseducationQH426Ecology Evolution Behavior and SystematicsCTmin030304 developmental biologyComparative genomicsWhole genome sequencingBayes TheoremDAS030104 developmental biologyGenetics PopulationGenomic divergenceMetagenomicsAdaptation
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Preparing for Winter: The Transcriptomic Response Associated with Different Day Lengths in Drosophila montana

2016

The work has been supported by a Natural Environment Research Council studentship to D.J.P. and an Academy of Finland grant to M.K. (project 268214). At northern latitudes, the most robust cue for assessing the onset of winter is the shortening of day lengths. Many species use day length as a cue to increase their cold tolerance and/or enter into diapause, but little is known about changes in gene expression that occur under different day lengths. We investigate the gene expression changes associated with differences in light/dark cycles in Drosophila montana, a northerly distributed species with a strong adult photoperiodic reproductive diapause. To examine gene expression changes induced …

0301 basic medicineCandidate geneQH301 Biologymedia_common.quotation_subjectZoologyQH426 GeneticsInvestigationsDiapauseBiologyQH426-470photoperiodQH30103 medical and health sciencestranscriptomicsBotanyGeneticsAnimalsCluster Analysisgeeniekspressioskin and connective tissue diseasesQH426Molecular BiologyDrosophilaGenetics (clinical)Overwinteringmedia_commonRegulation of gene expressionphotoperiodismGene Expression Profilingta1184Chromosome MappingComputational BiologyMolecular Sequence Annotationbiology.organism_classificationoverwinteringGene expression profilingdiapauseGene Ontology030104 developmental biologyGene Expression Regulationgene expressionta1181DrosophilaFemaleSeasonsGene expressionsense organsReproductionTranscriptome
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GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathw…

2017

Contains fulltext : 177350.pdf (Publisher’s version ) (Closed access) The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnaire (ACQ) in a sample of 1370 healthy German volunteers of the CRC TRR58 MEGA study wave 1. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 x 10-8; rs191260602, P=3.9 x 10-8). We followed up on this finding in a larger dimensional AC…

0301 basic medicineMaleStartle responseReflex StartleQH301 BiologyGenome-wide association studyGene mutationAnxiety0302 clinical medicineCognitionReceptors GlycineGene FrequencyGermanyGWASHyperekplexiaGeneticsPanic disordermedicine.diagnostic_testStartleBrainFearGLRBAnxiety DisordersPsychiatry and Mental healthSchizophreniaUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Panic DisorderFemalemedicine.symptomPsychologyBDCRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryClinical psychologyAdultGenotypeNDASQH426 Genetics03 medical and health sciencesCellular and Molecular NeuroscienceQH301Fear networkSpastic mousemedicineHumansGenetic Predisposition to DiseaseMolecular BiologyQH426AgoraphobiaAllelesNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Panic disorderOther Research Radboud Institute for Health Sciences [Radboudumc 0]medicine.diseaseStartle reaction030104 developmental biologyMCPCase-Control StudiesMutationRC0321030217 neurology & neurosurgeryAgoraphobiaGenome-Wide Association StudyMolecular psychiatry
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Science and Religion Dialogue: What is Life? Zinātnes un Reliģijas Dialogs: Kas ir dzīvība?

2013

Juris Cālītis, Paskāla liesmas, Dekarta rēgs un cilvēka dzīvība Dzintars Edvīns Bušs, Dzīvības jēdziena aprises dvēseles, gara un apziņas izpratnes kontekstā Dainis Zeps, Dzīvība un Matemātika: vai ir kāds kopsakars? scireprints.lu.lv/227/ Pāvils Tjurins, Huligānisma psiholoģija (Dabas normativitāte un psihes nenormativitāte), scireprints.lu.lv/229/ Jānis Rudzītis, Dzīvība Vecajā Derībā Enoks Biķis, Cilvēka dzīvība bioloģiskā un medicīniskā aspektā Normunds Titāns, Bioloģisks universs? Inteliģenta ārpuszemes dzīvība? Astroteoloģija? scireprints.lu.lv/228/ Kaspars Mičulis, Dzīvība un saprāts pašorganizācijas un antropā principa kontekstā, scireprints.lu.lv/226/ Florian Gahbauer, Dzīva būtne:…

BQ BuddhismBD Speculative PhilosophyQH301 BiologyQ01 Interdisciplinary sciences (General)QA Mathematics (General)GN AnthropologyB Philosophy (General)BS The BibleQH426 GeneticsP Philology. LinguisticsBL Religion
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Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

2013

The work conducted at the WTCHG was supported by Wellcome Trust grants [076566/Z/05/Z] and [075491/Z/04]; the work in Zurich partly by an SNSF grant [32-108130]. We also thank MAF (Mutation Analysis core Facility) at the Karolinska Institute, Novum, Huddinge. The French part of the project was funded by Agence Nationale de la Recherche (ANR-06-NEURO-019-01 GENEDYS) and Ville de Paris. S Paracchini is a Royal Society University Research Fellow. D Czamara was supported by the Deutsche Forschungsgemeinschaft (German Research Foundation) within the framework of the Munich Cluster for Systems Neurology (EXC 1010 SyNergy). Dyslexia is one of the most common childhood disorders with a prevalence o…

Candidate geneDyslexia10064 Neuroscience Center Zurich10. No inequalityGenetics (clinical)ta515Geneticseducation.field_of_study10093 Institute of PsychologyR10058 Department of Child and Adolescent Psychiatry3. Good healthAssociation studyPhenotype10076 Center for Integrative Human PhysiologyWord-reading[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Reading disability2716 Genetics (clinical)GenotypePopulationLocus (genetics)610 Medicine & healthSpellingQH426 GeneticsBDYBiologyR Medicineta3111Polymorphism Single NucleotideArticleCandidate genesQuantitative Trait HeritableMeta-Analysis as Topic1311 GeneticsDCDC2mental disordersGeneticsmedicineHumanseducationQH426Genetic Association StudiesGenetic associationHaplotypeDyslexiamedicine.diseaseHaplotypesGenetic LociCase-Control Studies570 Life sciences; biology150 PsychologyGenome-Wide Association Study
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Sex-specific responses to cold in a very cold-tolerant, northern Drosophila species

2021

Funding: This work was supported by Academy of Finland projects 268214 and 322980 to MK and a NERC (UK) grant NE/P000592/1 to MGR. Organisms can plastically alter resource allocation in response to changing environmental factors. For example, in harsh conditions, organisms are expected to shift investment from reproduction toward survival; however, the factors and mechanisms that govern the magnitude of such shifts are relatively poorly studied. Here we compared the impact of cold on males and females of the highly cold-tolerant species Drosophila montana at the phenotypic and transcriptomic levels. Although both sexes showed similar changes in cold tolerance and gene expression in response…

Male0106 biological sciences0301 basic medicineCold toleranceQH301 Biology01 natural sciencesTranscriptomekylmänkestävyysGene expressionGenetics(clinical)geeniekspressioResource allocationGenetics (clinical)Drosophilia montanamedia_commonsopeutuminenSex CharacteristicsbiologyReproductionSex specificPhenotypeCold TemperaturePhenotypeDrosophilaFemaleReproductionympäristönmuutoksetevoluutiobiologiamahlakärpäsetmedia_common.quotation_subjectZoologyQH426 GeneticsCold tolerance010603 evolutionary biologyArticleEvolutionary geneticssukupuoli03 medical and health sciencesQH301Sex-specificityGeneticsAnimalsDrosophilaQH426DASbiology.organism_classificationSexual dimorphism030104 developmental biologyGene expressionTranscriptome
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Pan-cancer analysis of whole genomes

2020

Publisher's version (útgefin grein)

Maletert promoter mutationsCancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2]DNA Mutational AnalysisNormal tissuesystematic analysisGermlineTranscriptome0302 clinical medicineAetiologyCàncerCellular SenescenceCancer0303 health sciencesdna-damageMassive parallel sequencingPan cancerREARRANGEMENTSHigh-Throughput Nucleotide SequencingGenomicsSciences bio-médicales et agricolesTelomereCOMPREHENSIVE3. Good healthTERT PROMOTER MUTATIONSsignatures030220 oncology & carcinogenesisScience & Technology - Other TopicsErfðarannsóknirHuman:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]EvolutionRNA SplicingGenomicsArticleEvolution MolecularStructural variationRC025403 medical and health sciencesSDG 3 - Good Health and Well-beingGeneticgenomicsSYSTEMATIC ANALYSISGeneticsGenomics--Databases.HumansGenetic TestingMolecular BiologySIGNATURESWhole genome sequencing1000 MultidisciplinaryChromothripsisScience & TechnologyRC0254 Neoplasms. Tumors. Oncology (including Cancer)Information DisseminationResearchInstitutes_Networks_Beacons/mcrcPreventionBiology and Life SciencesMolecularOncogenesCloud Computingmedicine.diseaseGenòmicaCompute cloudsMutation570 Life sciences; biologyCOMPREHENSIVE CHARACTERIZATIONGenèticaWhole Genome Sequencing--methodsBackground informationDNA Mutational Analysis ; Evolution ; Genetic / genetics ; Genome ; Genomics ; Germ-Line Mutation / genetics ; High-Throughput Nucleotide Sequencing ; Human / genetics ; Humans ; ICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumMedizinGenomeWhole-genomeGenome mappingNeoplasms2.1 Biological and endogenous factorsPromoter Regions GeneticCàncer -- Aspectes genèticsTelomeraseGeneticsWomen's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17]MultidisciplinaryChromothripsisGenomeManchester Cancer Research Centregenomics cancer profiling3rd-DAS10124 Institute of Molecular Life SciencesWomen's cancers Radboud Institute for Health Sciences [Radboudumc 17]Multidisciplinary SciencesParallel sequencingICGC/TCGA Pan-Cancer Analysis of Whole Genomes ConsortiumFemaleprofilingMedical GeneticsEngineering sciences. TechnologyBiotechnologyGeneral Science & TechnologyThe Cancer Genome Atlas610 Medicine & healthComputational biologyQH426 GeneticsBiologyConsortium of the International Cancer Genome ConsortiumPromoter RegionsGermline mutationPan-cancer analysisKrabbameinsrannsóknirmedicinecancerddc:610QH426Germ-Line MutationMedicinsk genetikKrabbamein030304 developmental biologyCell ProliferationLANDSCAPEGenome Humancomprehensive characterizationPan-cancer analysis of whole genomesPoint mutationHuman GenomeCancerReproducibility of ResultsSOMATIC MUTATIONSEVOLUTIONCancer sequencing Chromothripsis telomereDNA-DAMAGEMutagenesisPATTERNS3111 BiomedicineCHARACTERIZATION
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Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people

2022

Published August 23, 2022 The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 part…

NeuroinformaticsAdultkieli ja kieletAdolescentIndividualityQH426 GeneticsPolymorphism Single NucleotidelukeminenLanguage in InteractionYoung AdultSDG 3 - Good Health and Well-beingRA0421readingRA0421 Public health. Hygiene. Preventive MedicineHumansSpeechstudyPolymorphismReading jPreschoolChildQH426perinnöllisyysGenome-wide Association Study ; Language ; Meta-analysis ; ReadingLanguageMCCNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]genome-wide association studylanguageMultidisciplinarymeta-analyysi1184 Genetics developmental biology physiologykielitaito[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesDASSingle Nucleotide/dk/atira/pure/sustainabledevelopmentgoals/quality_educationmeta-analysisReadingGenetic LociChild Preschoolgenome-wide association study; language; meta-analysis; reading; Adolescent; Adult; Child; Child Preschool; Genetic Loci; Humans; Language; Polymorphism Single Nucleotide; Young Adult; Genome-Wide Association Study; Individuality; Reading; Speechperimälukutaitogenome-wide associationSDG 4 - Quality EducationGenome-Wide Association StudyProceedings of the National Academy of Sciences
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The era of reference genomes in conservation genomics

2022

Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics.

QH301 Biology580 Plants (Botany)Genetics -- ResearchEvolutionsbiologibiodiversity conservation; conservation genetics; ERGA; European Reference Genome AtlasConservation genetics; Biodiversity conservation; European Reference Genome Atlas; ERGAAnimal genome mappingudc:630*1GenomeGEERGA[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE][SDE.BE.BIOD]Environmental Sciences/Biodiversity and Ecology/domain_sde.be.biodERGA ; Biodiversity [MeSH] ; Genomics [MeSH] ; Ecology Evolution Behavior and Systematics ; conservation genetics ; Genome [MeSH] ; biodiversity conservation ; European Reference Genome Atlas3rd-DASGenomicsBiodiversityreferenčni genomi[SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM][SDE.BE.BEC]Environmental Sciences/Biodiversity and Ecology/domain_sde.be.becChemistry10121 Department of Systematic and Evolutionary BotanygenomikaGE Environmental Sciences:Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC]biodiverzitetaSettore BIO/18 - GENETICAeducationQH426 GeneticsQH301European Reference Genome AtlasVDP::Matematikk og Naturvitenskap: 400::Basale biofag: 470[SDE.BE.EVO]Environmental Sciences/Biodiversity and Ecology/domain_sde.be.evoGeneticsconservation genetics ; biodiversity conservation ; European Reference Genome Atlas ; ERGAgenomi10211 Zurich-Basel Plant Science CenterGenomesGenetikBiologyQH426Ecology Evolution Behavior and SystematicsEvolutionary BiologyBiodiversity conservation; Conservation genetics; European Reference Genome AtlasAmbientaleEcologíaGenética1105 Ecology Evolution Behavior and Systematicsconservation geneticsWildlife conservation570 Life sciences; biologyHuman medicinebiodiversity conservationAnimal genetics[SDE.BE]Environmental Sciences/Biodiversity and EcologyGenètica
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