| Zebrafish: a model for the study of addiction genetics |
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| Recent advances in the pharmacogenetics of clopidogrel |
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| Mutation risk associated with paternal and maternal age in a cohort of retinoblastoma survivors |
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| Genetic association between human chitinases and lung function in COPD |
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| Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer |
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| OPRM1 and EGFR contribute to skin pigmentation differences between Indigenous Americans and Europeans |
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✓ |
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Europeans |
| Effects of MAOA promoter methylation on susceptibility to paranoid schizophrenia |
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| GWAS-linked GAK locus in Parkinson’s disease in Han Chinese and meta-analysis |
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✓ |
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Han Chinese |
| Consistency of genome-wide associations across major ancestral groups |
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| Genetics of schizophrenia and smoking: an approach to studying their comorbidity based on epidemiological findings |
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| Utility of genetically modified mice for understanding the neurobiology of substance use disorders |
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| Studies in a consanguineous family reveal a novel locus for stuttering on chromosome 16q |
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| LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z−) agrin |
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| Translational genetic approaches to substance use disorders: bridging the gap between mice and humans |
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| Association of PDE4B polymorphisms and schizophrenia in Northwestern Han Chinese |
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✓ |
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Northwestern Han Chinese |
| Modeling human neurodegenerative diseases in transgenic systems |
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| Polymorphic NumtS trace human population relationships |
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| Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21 |
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| Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets |
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| Folate and vitamin B12-related genes and risk for omphalocele |
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| Strong protective effect of the aldehyde dehydrogenase gene (ALDH2) 504lys (*2) allele against alcoholism and alcohol-induced medical diseases in Asians |
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✓ |
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Asians |
| Mapping of locus for autosomal dominant retinitis pigmentosa on chromosome 6q23 |
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| Association of variants in BAT1-LTA-TNF-BTNL2 genes within 6p21.3 region show graded risk to leprosy in unrelated cohorts of Indian population |
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| Association of IFNGR2 gene polymorphisms with pulmonary tuberculosis among the Vietnamese |
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| A global view of the OCA2-HERC2 region and pigmentation |
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| A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692 |
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| Genetic determinants of Tibetan high-altitude adaptation |
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| Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data |
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| Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network |
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| Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications |
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| Genetics of GABAergic signaling in nicotine and alcohol dependence |
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| Recombination networks as genetic markers in a human variation study of the Old World |
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| Integrating pathway analysis and genetics of gene expression for genome-wide association study of basal cell carcinoma |
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| Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence |
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| A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder |
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| Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? |
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| Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing |
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| Increased prevalence of seizures in boys who were probands with the FMR1 premutation and co-morbid autism spectrum disorder |
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| Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis |
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| Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans |
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| Fine mapping of 14q24.1 breast cancer susceptibility locus |
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| Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II |
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| Review of Aaron Gillette, Eugenics and the nature–nurture debate in the twentieth century 2007, paperback edition, 2011, New York: Palgrave Macmillan |
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| Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height |
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| Genome-wide association study identifies HMGN3 locus for spine bone size variation in Chinese |
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| SLC39A2 and FSIP1 polymorphisms as potential modifiers of arsenic-related bladder cancer |
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| Alan E. H. Emery, Marcia L. H. Emery: The History of a Genetic Disease. Duchenne Muscular Dystrophy or Meryon’s Disease |
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| The genetics of kidney transplantation |
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| Association study of the KCNJ3 gene as a susceptibility candidate for schizophrenia in the Chinese population |
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✓ |
|
Chinese population |
| Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia |
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| Michelle Webb (ed): Cancer Susceptibility: Methods and Protocols |
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| High altitude adaptation in Daghestani populations from the Caucasus |
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| Expression signature of epidermolysis bullosa simplex |
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| Novel Alu retrotransposon insertion leading to Alström syndrome |
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| Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes |
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| The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations |
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✓ |
|
Korean populations |
| Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing |
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| Sex differences in disease risk from reported genome-wide association study findings |
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| Associations between gene polymorphisms in fatty acid metabolism pathway and preterm delivery in a US urban black population |
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✓ |
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US urban black population |
| Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH |
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| Biobanking residual tissues |
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| Successful COG8 and PDF overlap is mediated by alterations in splicing and polyadenylation signals |
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| Analysis of family- and population-based samples in cohort genome-wide association studies |
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| High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44 |
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| Functional haplotypes of Fc gamma (Fcγ) receptor (FcγRIIA and FcγRIIIB) predict risk to repeated episodes of severe malarial anemia and mortality in Kenyan children |
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| The impact of Converso Jews on the genomes of modern Latin Americans |
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| From single biobanks to international networks: developing e-governance |
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| Biobanks and the phantom public |
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| Elof Axel Carlson: Mutation: the history of an idea from Darwin to genomics |
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| Reflexive governance in biobanking: on the value of policy led approaches and the need to recognise the limits of law |
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| Biobanking and public health: is a human rights approach the tie that binds? |
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| An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group |
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| Meta-analysis of new genome-wide association studies of colorectal cancer risk |
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| Biobanking and international interoperability: samples |
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| Mitochondrial Haplogroup X is associated with successful aging in the Amish |
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| Young Min Kwon, Steven C. Ricke: High throughput next generation sequencing, methods and applications. Methods in molecular biology |
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| The cell adhesion gene PVRL3 is associated with congenital ocular defects |
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| Preimplantation genetic diagnosis: State of the ART 2011 |
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| A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain |
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| The art and science of biobanking |
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| Spectrum of large copy number variations in 26 diverse Indian populations: potential involvement in phenotypic diversity |
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| Identifiability in biobanks: models, measures, and mitigation strategies |
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| John C. Avise: Inside the human genome: a case for non-intelligent design |
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| Spread of X-chromosome inactivation into chromosome 15 is associated with Prader–Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation |
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| Common variants for atrial fibrillation: results from genome-wide association studies |
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| Artifact due to differential error when cases and controls are imputed from different platforms |
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| Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) |
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| Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis |
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| Mitochondrial DNA and inflammatory diseases |
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| A polymorphism of the interferon-gamma-inducible protein 30 gene is associated with hyperglycemia in severely obese individuals |
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| Risk factors for autism: translating genomic discoveries into diagnostics |
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| Novel variant Pro143Ala in HTRA2 contributes to Parkinson’s disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria |
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| Personalized medicine: new genomics, old lessons |
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| A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q |
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| Closure of population biobanks and direct-to-consumer genetic testing companies |
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| Molecular genetic studies of gene identification for sarcopenia |
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| Genomic databases access agreements: legal validity and possible sanctions |
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| Mutations in the NRG1 gene are associated with Hirschsprung disease |
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| Realizing the promise of population biobanks: a new model for translation |
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| Biobanking and deceased persons |
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| Attitudes on DNA ancestry tests |
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| MHC region and risk of systemic lupus erythematosus in African American women |
|
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✓ |
|
African American |
| Sex-specific effect of the TP53 PIN3 polymorphism on cancer risk in a cohort study of TP53 germline mutation carriers |
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| Integrative computational biology for cancer research |
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| Evolutionary diversity and developmental regulation of X-chromosome inactivation |
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| The road ahead: less travelled and more arduous than initially envisioned |
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| Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD |
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| Current status of genome-wide association studies in cancer |
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| X chromosome inactivation in human and mouse pluripotent stem cells |
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| The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions |
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| Anticipation in hereditary disease: the history of a biomedical concept |
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| X-inactivation and X-reactivation: epigenetic hallmarks of mammalian reproduction and pluripotent stem cells |
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| The single active X in human cells: evolutionary tinkering personified |
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| A miRNA-492 binding-site polymorphism in BSG (basigin) confers risk to psoriasis in Central South Chinese population |
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✓ |
|
Central South Chinese population |
| XCI in preimplantation mouse and human embryos: first there is remodelling… |
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| Type 2 diabetes and obesity: genomics and the clinic |
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| Somatic variation and cancer: therapies lost in the mix |
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| Mary Lyon and the hypothesis of random X chromosome inactivation |
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| Alterations of ATM and CADM1 in chromosomal 11q22.3–23.2 region are associated with the development of invasive cervical carcinoma |
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| Population biobanks and returning individual research results: mission impossible or new directions? |
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| A scaffold for X chromosome inactivation |
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| Children and biobanks: a review of the ethical and legal discussion |
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| A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer risk |
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| Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p |
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| Xist regulation and function eXplored |
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| Paul A Lombardo: A Century of Eugenics in America. From the Indiana Experiment to the Human Genome Era |
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| Two-marker association tests yield new disease associations for coronary artery disease and hypertension |
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| Genes that escape from X inactivation |
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| Lionizing lyonization 50 years on |
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| A mutation screen in patients with Kabuki syndrome |
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| Chromosome-wide DNA methylation analysis predicts human tissue-specific X inactivation |
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| Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers |
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| Genomic medicine and neurological disease |
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| Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8 |
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| Maternally transmitted foetal H19 variants and associations with birth weight |
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| Mechanistic insights into chromosome-wide silencing in X inactivation |
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| X-chromosome inactivation: molecular mechanisms from the human perspective |
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| Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders |
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| RNAi: a potential new class of therapeutic for human genetic disease |
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| ATXN-2 CAG repeat expansions are interrupted in ALS patients |
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| Two novel mutations of the IRX4 gene in patients with congenital heart disease |
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| The X-inactivation trans-activator Rnf12 is negatively regulated by pluripotency factors in embryonic stem cells |
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| Neurologic and ocular phenotype in Pitt–Hopkins syndrome and a zebrafish model |
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| Statistical approaches for the analysis of DNA methylation microarray data |
|
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| Erratum to: Significant association of glutamate receptor, ionotropic N-methyl-d-aspartate 3A (GRIN3A), with nicotine dependence in European- and African-American smokers |
|
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|
✓ |
|
✓ |
|
European- and African-American smokers; African-American smokers |
| Electronic medical records and personalized medicine |
|
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|
| Preclinical strategies to define predictive biomarkers for therapeutically relevant cancer subtypes |
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| Linkage analysis of plasma dopamine β-hydroxylase activity in families of patients with schizophrenia |
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| Genetic counselling for personalised medicine |
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| Translating genomics into improved population screening: hype or hope? |
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| Genomic markers to tailor treatments: waiting or initiating? |
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| Direct-to-consumer testing: if consumers are not anxious, why are policymakers? |
|
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| Erratum to: Genetic analysis of Down syndrome-associated heart defects in mice |
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| Identification of a novel prostate cancer susceptibility variant in the KLK3 gene transcript |
|
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|
| Genetic analysis of Down syndrome-associated heart defects in mice |
|
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| Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia |
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|
| Cassidy and Allanson: Management of Genetic Syndromes, 3rd edition |
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| The efficacy of detecting variants with small effects on the Affymetrix 6.0 platform using pooled DNA |
|
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| Identification of QTL genes for BMD variation using both linkage and gene-based association approaches |
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| The role of polymorphisms in Toll-like receptors and their associated intracellular signaling genes in measles vaccine immunity |
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| Potential novel candidate polymorphisms identified in genome-wide association study for breast cancer susceptibility |
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|
| Joakim Dillner: Methods in Biobanking |
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| Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay |
|
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| Technology-specific error signatures in the 1000 Genomes Project data |
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| BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome |
|
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| Recent progress in the study of the genetics of height |
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| The −14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity |
|
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|
| Fine mapping the KLK3 locus on chromosome 19q13.33 associated with prostate cancer susceptibility and PSA levels |
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| Revisiting Mendelian disorders through exome sequencing |
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| Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li–Fraumeni syndrome |
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| Jane Gitschier: Speaking of genetics. A collection of interviews |
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| Genetic variants in TLR2 and TLR4 are associated with markers of monocyte activation: the Atherosclerosis Risk in Communities MRI Study |
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| Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease |
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| Genetic contribution of the leukotriene pathway to coronary artery disease |
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| A dynamic model for genome-wide association studies |
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| Lingo2 variants associated with essential tremor and Parkinson’s disease |
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| Mutations in Fanconi anemia genes and the risk of esophageal cancer |
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| Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis |
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| Rebecca Skloot: The immortal life of Henrietta Lacks |
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| Genetic analysis of biological pathway data through genomic randomization |
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| Germline PKHD1 mutations are protective against colorectal cancer |
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| Common genetic variation in the 3′-untranslated region of gonadotropin-releasing hormone receptor regulates gene expression in cella and is associated with thyroid function, insulin secretion as well |
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| BR-squared: a practical solution to the winner’s curse in genome-wide scans |
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| Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family |
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| Genes in the insulin and insulin-like growth factor pathway and odds of metachronous colorectal neoplasia |
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| Genomic and genealogical investigation of the French Canadian founder population structure |
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| Transcriptional control of the human glucocorticoid receptor: identification and analysis of alternative promoter regions |
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| A genome-wide association analysis reveals 1p31 and 2p13.3 as susceptibility loci for Kawasaki disease |
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| Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia |
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| Leptin expression and leptin receptor gene polymorphisms in growth hormone deficiency patients |
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| Model-based prediction of human hair color using DNA variants |
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| A genome-wide screen of gene–gene interactions for rheumatoid arthritis susceptibility |
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