Genome, Human Concept

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A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder Academic Article
A Genome-Wide Scan for Childhood Obesity–Associated Traits in French Families Shows Significant Linkage on Chromosome 6q22.31-q23.2 Academic Article
A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F Academic Article
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease Academic Article
A genome-wide association study identifies novel risk loci for type 2 diabetes Academic Article
A genome-wide association study of sporadic ALS in a homogenous Irish population Academic Article
A genome-wide scan for common alleles affecting risk for autism Academic Article
A robust method to estimate regional polygenic correlation under misspecified linkage disequilibrium structure Academic Article
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel Academic Article
Advances in Genomic Analysis of Stroke Academic Article
Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm Academic Article
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Academic Article
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations Academic Article
Cellular Reprogramming Allows Generation of Autologous Hematopoietic Progenitors From AML Patients That Are Devoid of Patient-Specific Genomic Aberrations Academic Article
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders Academic Article
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 Academic Article
Common variants near MC4R are associated with fat mass, weight and risk of obesity Academic Article
Comparative genomic and genetic analysis of glioblastoma-derived brain tumor-initiating cells and their parent tumors Academic Article
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Academic Article
Delayed expression of lethal mutations and genomic instability in the progeny of human epithelial cells that survived in a bystander-killing environment Academic Article
Detection of α2- and α1- Globin Gene Variants by a Modified Cycle Sequencing Method Academic Article
Direct-to-consumer genetic testing: letting the genie out of the bottle? Academic Article
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray Academic Article
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines Academic Article
Extremes of Unexplained Variation as a Phenotype Academic Article
Generation of a new adenovirus type 12-inducible fragile site by insertion of an artificial U2 locus in the human genome. Academic Article
Genetic Discontinuity between the Maritime Archaic and Beothuk Populations in Newfoundland, Canada Academic Article
Genetic Loci Associated With Plasma Concentration of Low-Density Lipoprotein Cholesterol, High-Density Lipoprotein Cholesterol, Triglycerides, Apolipoprotein A1, and Apolipoprotein B Among 6382 White Women in Genome-Wide Analysis With Replication Academic Article
Genetic aspects of female reproduction Academic Article
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs Academic Article
Genetic testing for atherosclerosis risk: Inevitability or pipe dream? Academic Article
Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia Academic Article
Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24 Academic Article
Genome-Wide Association Analysis of Soluble ICAM-1 Concentration Reveals Novel Associations at the NFKBIK, PNPLA3, RELA, and SH2B3 Loci Academic Article
Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway Academic Article
Genome-wide Linkage Analysis for Severe Obesity in French Caucasians Finds Significant Susceptibility Locus on Chromosome 19q Academic Article
Genome-wide association scans identified CTNNBL1 as a novel gene for obesity Academic Article
Genome-wide detection of tandem DNA repeats that are expanded in autism Academic Article
Genome-wide host methylation profiling of anal and cervical carcinoma Academic Article
Genome-wide linkage analysis of systolic blood pressure slope using the Genetic Analysis Workshop 13 data sets Academic Article
Genome‐wideDNAmethylation changes with age in disease‐free human skeletal muscle Academic Article
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Academic Article
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations Academic Article
Genomics and epigenomics in pediatric oncology and clinical laboratory genetics Academic Article
Histone Modification Profiling in Normal and Transformed Human Embryonic Stem Cells Using Micro Chromatin Immunoprecipitation, Scalable to Genome-Wide Microarray Analyses Academic Article
Hundreds of variants clustered in genomic loci and biological pathways affect human height Academic Article
Hybridization in human evolution: Insights from other organisms Academic Article
Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts Academic Article
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies Academic Article
Induction of genomic instability in SV40 transformed human cells: sufficiency of the N-terminal 147 amino acids of large T antigen and role of pRB and p53. Academic Article
Integrated genomic characterization of oesophageal carcinoma Academic Article
Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study Academic Article
Longitudinal Data Analysis in Genome-Wide Association Studies Academic Article
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution Academic Article
Meta-analysis of genetic association studies under heterogeneity Academic Article
Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates Academic Article
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma Academic Article
NSD1 mutations generate a genome-wide DNA methylation signature Academic Article
Novel Association of ABO Histo-Blood Group Antigen with Soluble ICAM-1: Results of a Genome-Wide Association Study of 6,578 Women Academic Article
Novel Association of HK1 with Glycated Hemoglobin in a Non-Diabetic Population: A Genome-Wide Evaluation of 14,618 Participants in the Women's Genome Health Study Academic Article
On the Use of Variance per Genotype as a Tool to Identify Quantitative Trait Interaction Effects: A Report from the Women's Genome Health Study Academic Article
PLAG1 and USF2 Co-regulate Expression of Musashi-2 in Human Hematopoietic Stem and Progenitor Cells Academic Article
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Academic Article
Personalized medicine - the promised land: are we there yet? Academic Article
Post Genome-Wide Association Studies of Novel Genes Associated with Type 2 Diabetes Show Gene-Gene Interaction and High Predictive Value Academic Article
Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders Academic Article
Proteins Required for Centrosome Clustering in Cancer Cells Academic Article
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between Academic Article
SAGE2: parallel human genome assembly Academic Article
Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability Academic Article
Should We Have Blind Faith in Bioinformatics Software? Illustrations from the SNAP Web-Based Tool Academic Article
Statistical genetics with application to population-based study design: a primer for clinicians Academic Article
Subgroup-specific structural variation across 1,000 medulloblastoma genomes Academic Article
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach Academic Article
Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care Academic Article
The Human Enhancer Blocker CTC-binding Factor Interacts with the Transcription Factor Kaiso Academic Article
The aryl hydrocarbon receptor directs hematopoietic progenitor cell expansion and differentiation Academic Article
The case for strategic international alliances to harness nutritional genomics for public and personal health Academic Article
The role of clinical response to treatment in determining pathogenicity of genomic variants Academic Article
Thrombocytopenic Platelet Disorders Academic Article
Two New Loci for Body-Weight Regulation Identified in a Joint Analysis of Genome-Wide Association Studies for Early-Onset Extreme Obesity in French and German Study Groups Academic Article
Type 2 Diabetes Whole-Genome Association Study in Four Populations: The DiaGen Consortium Academic Article
VDR primary targets by genome-wide transcriptional profiling Academic Article