population cohort

Aliases

combined cohort, different populations, human chromosomes, multiple population groups, overall population, population, population cohort, population cohorts, population-based study, present study population, subpopulation, total population, worldwide human population

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Mentioned in (55)

Papers in which this entity is mentioned.

• Integrated in vivo combinatorial functional genomics and spatial transcriptomics of tumours to decode genotype-to-phenotype relationships. (2026)
• Robust and accurate Bayesian inference of genome-wide genealogies for hundreds of genomes. (2025)
• Genome-wide association testing beyond SNPs. (2025)
• Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition. (2025)
• Principles and methods for transferring polygenic risk scores across global populations. (2024)
• Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders. (2024)
• A harmonized public resource of deeply sequenced diverse human genomes. (2024)
• Pitfalls of predicting age-related traits by polygenic risk scores. (2023)
• Research Review: A guide to computing and implementing polygenic scores in developmental research. (2022)
• Variant interpretation using population databases: Lessons from gnomAD. (2022)
• AFA: Ancestry-specific allele frequency estimation in admixed populations: The Hispanic Community Health Study/Study of Latinos. (2022)
• Principal Component Analyses (PCA)-based findings in population genetic studies are highly biased and must be reevaluated. (2022)
• Prenatal Adversity Alters the Epigenetic Profile of the Prefrontal Cortex: Sexually Dimorphic Effects of Prenatal Alcohol Exposure and Food-Related Stress. (2021)
• A practical guide to cancer subclonal reconstruction from DNA sequencing. (2021)
• Data structures based on -mers for querying large collections of sequencing data sets. (2021)
• Genotypes of informative loci from 1000 Genomes data allude evolution and mixing of human populations. (2021)
• Polygenic risk scores: from research tools to clinical instruments. (2020)
• Tutorial: a guide to performing polygenic risk score analyses. (2020)
• ASEP: Gene-based detection of allele-specific expression across individuals in a population by RNA sequencing. (2020)
• The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
• Detecting cell-type-specific allelic expression imbalance by integrative analysis of bulk and single-cell RNA sequencing data (2020)
• Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing. (2020)
• Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
• Integrating predicted transcriptome from multiple tissues improves association detection. (2019)
• Risk and protective factors for child development: An observational South African birth cohort. (2019)
• mSignatureDB: a database for deciphering mutational signatures in human cancers. (2018)
• Drakenstein Child Health Study (DCHS): investigating determinants of early child development and cognition. (2018)
• Immune diversity sheds light on missing variation in worldwide genetic diversity panels. (2018)
• Picky comprehensively detects high-resolution structural variants in nanopore long reads. (2018)
• Universal Patterns of Selection in Cancer and Somatic Tissues. (2017)
• Cortical gyrification is abnormal in children with prenatal alcohol exposure. (2017)
• A method to reduce ancestry related germline false positives in tumor only somatic variant calling. (2017)
• Eigenanalysis of SNP data with an identity by descent interpretation. (2016)
• Detecting Genomic Signatures of Natural Selection with Principal Component Analysis: Application to the 1000 Genomes Data. (2016)
• Quantifying Clonal and Subclonal Passenger Mutations in Cancer Evolution. (2016)
• Tools and best practices for data processing in allelic expression analysis. (2015)
• Recurrent somatic mutations in regulatory regions of human cancer genomes. (2015)
• A global reference for human genetic variation. (2015)
• HLA-VBSeq: accurate HLA typing at full resolution from whole-genome sequencing data. (2015)
• Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene. (2014)
• Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. (2014)
• The teratogenic effects of prenatal ethanol exposure are exacerbated by Sonic Hedgehog or GLI2 haploinsufficiency in the mouse. (2014)
• THetA: inferring intra-tumor heterogeneity from high-throughput DNA sequencing data. (2013)
• Dosage transmission disequilibrium test (dTDT) for linkage and association detection. (2013)
• Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. (2013)
• Improving bioinformatic pipelines for exome variant calling. (2012)
• Ethanol-induced face-brain dysmorphology patterns are correlative and exposure-stage dependent. (2012)
• An integrated encyclopedia of DNA elements in the human genome. (2012)
• The Pediatric Cancer Genome Project. (2012)
• Bayesian inference of ancient human demography from individual genome sequences. (2011)
• Linkage analysis merging replicate phenotypes: an application to three quantitative phenotypes in two African samples. (2011)
• Imaging the impact of prenatal alcohol exposure on the structure of the developing human brain. (2011)
• The plausibility of maternal nutritional status being a contributing factor to the risk for fetal alcohol spectrum disorders: the potential influence of zinc status as an example. (2010)
• Accurate and reliable high-throughput detection of copy number variation in the human genome. (2006)
• Using whole-genome sequencing to evaluate copy number variants of the LPA Kringle-IV type 2 domain with DRAGEN

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