human cohort

Aliases

Homo sapiens, Taxonomic ID 9606, controls, human, human beings, human genetics, human mothers, human postmortem, humans, patients, post-mortem human tissue

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Mentioned in (72)

Papers in which this entity is mentioned.

• Investigation of a global mouse methylome atlas reveals subtype-specific copy number alterations in pediatric cancer models. (2026)
• Integrated in vivo combinatorial functional genomics and spatial transcriptomics of tumours to decode genotype-to-phenotype relationships. (2026)
• Annotating the genome at single-nucleotide resolution with DNA foundation models. (2025)
• Tree-based differential testing using inferential uncertainty for RNA-seq. (2025)
• Nucleotide Transformer: building and evaluating robust foundation models for human genomics. (2025)
• Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations. (2025)
• Identifying Spatial Co-occurrence in Healthy and InflAmed tissues (ISCHIA). (2024)
• Mutations in the Bone Morphogenetic Protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations. (2024)
• Human 3D brain organoids: steering the demolecularization of brain and neurological diseases. (2023)
• A guide to the BRAIN Initiative Cell Census Network data ecosystem. (2023)
• GenSLMs: Genome-scale language models reveal SARS-CoV-2 evolutionary dynamics. (2022)
• The effects of gestational choline supplementation on cerebellar Purkinje cell number in the sheep model of binge alcohol exposure during the first trimester-equivalent. (2022)
• Spatially resolved whole transcriptome profiling in human and mouse tissue using Digital Spatial Profiling. (2022)
• Sequence aligners can guarantee accuracy in almost <i>O</i> ( <i>m</i> log <i>n</i> ) time: a rigorous average-case analysis of the seed-chain-extend heuristic (2022)
• Prenatal Adversity Alters the Epigenetic Profile of the Prefrontal Cortex: Sexually Dimorphic Effects of Prenatal Alcohol Exposure and Food-Related Stress. (2021)
• Evaluating the transcriptional fidelity of cancer models. (2021)
• BUTTERFLY: addressing the pooled amplification paradox with unique molecular identifiers in single-cell RNA-seq. (2021)
• Loss of tumor protein 53 protects against alcohol-induced facial malformations in mice and zebrafish. (2021)
• Systematic evaluation of differential splicing tools for RNA-seq studies. (2020)
• GenMap: ultra-fast computation of genome mappability. (2020)
• Addressing the pooled amplification paradox with unique molecular identifiers in single-cell RNA-seq (2020)
• The Relationship Between Socioeconomic Status and Brain Volume in Children and Adolescents With Prenatal Alcohol Exposure. (2020)
• Maternal choline supplementation mitigates alcohol-induced fetal cranio-facial abnormalities detected using an ultrasonographic examination in a sheep model. (2019)
• Structural variant calling: the long and the short of it. (2019)
• Persistent Changes in Stress-Regulatory Genes in Pregnant Women or Children Exposed Prenatally to Alcohol. (2019)
• HOCOMOCO: towards a complete collection of transcription factor binding models for human and mouse via large-scale ChIP-Seq analysis. (2018)
• A compendium of conserved cleavage and polyadenylation events in mammalian genes. (2018)
• Diving into the world of alcohol teratogenesis: a review of zebrafish models of fetal alcohol spectrum disorder. (2018)
• Annotation-free quantification of RNA splicing using LeafCutter. (2018)
• XBSeq2: a fast and accurate quantification of differential expression and differential polyadenylation. (2017)
• A pooled mutational analysis identifies ionizing radiation-associated mutational signatures conserved between mouse and human malignancies. (2017)
• Orthotopic patient-derived xenografts of paediatric solid tumours. (2017)
• Gene-environment interactions in development and disease. (2017)
• Detect tissue heterogeneity in gene expression data with BioQC. (2017)
• Video-based data acquisition system for use in eye blink classical conditioning procedures in sheep. (2017)
• Maternal choline supplementation in a sheep model of first trimester binge alcohol fails to protect against brain volume reductions in peripubertal lambs. (2016)
• The Ensembl gene annotation system. (2016)
• New insights into the generation and role of de novo mutations in health and disease. (2016)
• Roar: detecting alternative polyadenylation with standard mRNA sequencing libraries. (2016)
• Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel). (2016)
• The Genetics of Fetal Alcohol Spectrum Disorders. (2016)
• Eyeblink Classical Conditioning in Alcoholism and Fetal Alcohol Spectrum Disorders. (2015)
• The impact of micronutrient supplementation in alcohol-exposed pregnancies on information processing skills in Ukrainian infants. (2015)
• Computed tomography assessment of peripubertal craniofacial morphology in a sheep model of binge alcohol drinking in the first trimester. (2015)
• Reconstructing A/B compartments as revealed by Hi-C using long-range correlations in epigenetic data. (2015)
• RefSeq: an update on mammalian reference sequences. (2014)
• A screen of zebrafish mutants identifies ethanol-sensitive genetic loci. (2014)
• PVT1 dependence in cancer with MYC copy-number increase. (2014)
• Dysmorphogenic effects of first trimester-equivalent ethanol exposure in mice: a magnetic resonance microscopy-based study. (2014)
• Developmental age strengthens barriers to ethanol accumulation in zebrafish. (2014)
• Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges. (2013)
• P-value-based regulatory motif discovery using positional weight matrices. (2013)
• Properties of MHC class I presented peptides that enhance immunogenicity. (2013)
• Commonality in Down and fetal alcohol syndromes. (2013)
• Characterizing and measuring bias in sequence data. (2013)
• ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia. (2012)
• Uberon, an integrative multi-species anatomy ontology. (2012)
• Fast computation and applications of genome mappability. (2012)
• DELLY: structural variant discovery by integrated paired-end and split-read analysis. (2012)
• Magnetic resonance-based imaging in animal models of fetal alcohol spectrum disorder. (2011)
• Functional consequences of developmentally regulated alternative splicing. (2011)
• Linkage analysis merging replicate phenotypes: an application to three quantitative phenotypes in two African samples. (2011)
• POLYAR, a new computer program for prediction of poly(A) sites in human sequences. (2010)
• Magnetic resonance microscopy defines ethanol-induced brain abnormalities in prenatal mice: effects of acute insult on gestational day 7. (2010)
• Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition. (2010)
• Prenatal choline supplementation mitigates the adverse effects of prenatal alcohol exposure on development in rats. (2009)
• Facial Image Classification of Mouse Embryos for the Animal Model Study of Fetal Alcohol Syndrome. (2009)
• Computation for ChIP-seq and RNA-seq studies. (2009)
• Chronic binge ethanol-mediated acidemia reduces availability of glutamine and related amino acids in maternal plasma of pregnant sheep. (2008)
• 3' end mRNA processing: molecular mechanisms and implications for health and disease. (2008)
• Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)
• A large-scale analysis of mRNA polyadenylation of human and mouse genes. (2005)

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