Genome, Human Concept

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A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder Journal Articles
A Novel CpG Island Set Identifies Tissue-Specific Methylation at Developmental Gene Loci Journal Articles
A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F Journal Articles
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease Journal Articles
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings Journal Articles
A genome-wide association study of sporadic ALS in a homogenous Irish population Journal Articles
A genome-wide scan for common alleles affecting risk for autism Journal Articles
A genomic storm in critically injured humans Journal Articles
A robust method to estimate regional polygenic correlation under misspecified linkage disequilibrium structure Journal Articles
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel Journal Articles
Advances in Genomic Analysis of Stroke Journal Articles
Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm Journal Articles
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Journal Articles
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations Journal Articles
Cellular Reprogramming Allows Generation of Autologous Hematopoietic Progenitors From AML Patients That Are Devoid of Patient-Specific Genomic Aberrations Journal Articles
Characterization of Mutational Status, Spheroid Formation, and Drug Response of a New Genomically-Stable Human Ovarian Clear Cell Carcinoma Cell Line, 105C Journal Articles
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders Journal Articles
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 Journal Articles
Combining accurate tumor genome simulation with crowdsourcing to benchmark somatic structural variant detection Journal Articles
Comparative genomic and genetic analysis of glioblastoma-derived brain tumor-initiating cells and their parent tumors Journal Articles
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Journal Articles
Delayed expression of lethal mutations and genomic instability in the progeny of human epithelial cells that survived in a bystander-killing environment Journal Articles
Detection of α2- and α1- Globin Gene Variants by a Modified Cycle Sequencing Method Journal Articles
Direct-to-consumer genetic testing: letting the genie out of the bottle? Journal Articles
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray Journal Articles
EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines Journal Articles
Estimation of duplication history under a stochastic model for tandem repeats Journal Articles
Extremes of Unexplained Variation as a Phenotype Journal Articles
Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma Journal Articles
Generation of a new adenovirus type 12-inducible fragile site by insertion of an artificial U2 locus in the human genome. Journal Articles
Genetic Discontinuity between the Maritime Archaic and Beothuk Populations in Newfoundland, Canada Journal Articles
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 Journal Articles
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs Journal Articles
Genetic testing for atherosclerosis risk: Inevitability or pipe dream? Journal Articles
Genome scan of Arab Israeli families maps a schizophrenia susceptibility gene to chromosome 6q23 and supports a locus at chromosome 10q24 Journal Articles
Genome-Wide Association Analysis of Soluble ICAM-1 Concentration Reveals Novel Associations at the NFKBIK, PNPLA3, RELA, and SH2B3 Loci Journal Articles
Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway Journal Articles
Genome-wide comparisons of gene expression in adult versus elderly burn patients Journal Articles
Genome-wide detection of tandem DNA repeats that are expanded in autism Journal Articles
Genome-wide germline correlates of the epigenetic landscape of prostate cancer Journal Articles
Genome-wide host methylation profiling of anal and cervical carcinoma Journal Articles
Genome-wide linkage analysis of systolic blood pressure slope using the Genetic Analysis Workshop 13 data sets Journal Articles
Genome‐wide DNA methylation changes with age in disease‐free human skeletal muscle Journal Articles
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes Journal Articles
Genomic hallmarks of localized, non-indolent prostate cancer Journal Articles
Genomics and epigenomics in pediatric oncology and clinical laboratory genetics Journal Articles
Germline contamination and leakage in whole genome somatic single nucleotide variant detection. Journal Articles
Histone Modification Profiling in Normal and Transformed Human Embryonic Stem Cells Using Micro Chromatin Immunoprecipitation, Scalable to Genome-Wide Microarray Analyses Journal Articles
Hundreds of variants clustered in genomic loci and biological pathways affect human height Journal Articles
Hybridization in human evolution: Insights from other organisms Journal Articles
Identifying gene–gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts Journal Articles
Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies Journal Articles
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. Journal Articles
Large-scale functional screen identifies genetic variants with splicing effects in modern and archaic humans Journal Articles
Loci Related to Metabolic-Syndrome Pathways Including LEPR,HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study Journal Articles
Longitudinal Data Analysis in Genome‐Wide Association Studies Journal Articles
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution Journal Articles
Meta-analysis of genetic association studies under heterogeneity Journal Articles
Mouse phenogenomics, toolbox for functional annotation of human genome Journal Articles
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma Journal Articles
NSD1 mutations generate a genome-wide DNA methylation signature Journal Articles
Novel Association of ABO Histo-Blood Group Antigen with Soluble ICAM-1: Results of a Genome-Wide Association Study of 6,578 Women Journal Articles
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 Journal Articles
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 Journal Articles
PLAG1 and USF2 Co-regulate Expression of Musashi-2 in Human Hematopoietic Stem and Progenitor Cells Journal Articles
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies Journal Articles
Personalized medicine - the promised land: are we there yet? Journal Articles
Proteins Required for Centrosome Clustering in Cancer Cells Journal Articles
Recent developments in the genetic history of East Asia and Oceania Journal Articles
SAGE2: parallel human genome assembly Journal Articles
Sex differences in repetitive stereotyped behaviors in autism: Implications for genetic liability Journal Articles
Statistical genetics with application to population-based study design: a primer for clinicians Journal Articles
Subgroup-specific structural variation across 1,000 medulloblastoma genomes Journal Articles
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach Journal Articles
Testing personalized medicine: patient and physician expectations of next-generation genomic sequencing in late-stage cancer care Journal Articles
The Gateway from Near into Remote Oceania: New Insights from Genome-Wide Data Journal Articles
The Human Enhancer Blocker CTC-binding Factor Interacts with the Transcription Factor Kaiso Journal Articles
The aryl hydrocarbon receptor directs hematopoietic progenitor cell expansion and differentiation Journal Articles
The role of clinical response to treatment in determining pathogenicity of genomic variants Journal Articles
Thrombocytopenic Platelet Disorders Journal Articles
Two ancient human genomes reveal Polynesian ancestry among the indigenous Botocudos of Brazil Journal Articles
VDR primary targets by genome-wide transcriptional profiling Journal Articles