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Pamela Sklar

  1. PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
    2007/08/08 by Shaun Purcell, Benjamin M. Neale, Benjamin Neale +14 · 890 citations
    Biochemistry, Genetics and Molecular Biology · Psychology · #Association (psychology) #Association mapping #Bioinformatics and Genomic Networks #Biology #Computational biology #Computer science #Demography #Evolutionary biology #Gene #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic association #Genetics #Genome-wide association study #Genotype #Linkage (software) #Population #Psychology #Set (abstract data type) #Single-nucleotide polymorphism #Sociology
  2. 10 Years of GWAS Discovery: Biology, Function, and Translation
    2017/07/01 by Peter M. Visscher, Naomi R. Wray, Qian Zhang +4 · 104 citations
    Biochemistry, Genetics and Molecular Biology · #Biology #Computational biology #Computer science #Data science #Gene #Genetics #Genome-wide association study #Genomics and Phylogenetic Studies #Genotype #Glycosylation and Glycoproteins Research #Machine Learning in Bioinformatics #Single-nucleotide polymorphism #Translation (biology)
  3. Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
    2015/10/01 by Bjarni J. Vilhjálmsson, Bjarni J. Vilhjálmsson, Jian Yang +452 · 60 citations
    Biochemistry, Genetics and Molecular Biology · Mathematics · Medicine · #Advanced Causal Inference Techniques #Allele #Artificial intelligence #Bioinformatics and Genomic Networks #Biology #Computer science #Disequilibrium #Genetic Associations and Epidemiology #Genetics #Haplotype #Linkage disequilibrium #Mathematics #Medicine #Pattern recognition (psychology) #Polygenic risk score #Pruning #Sample (material) #Sample size determination #Single-nucleotide polymorphism #Statistics #Thresholding
  4. Molecular Genetics of Attention-Deficit/Hyperactivity Disorder
    2005/01/25 by Stephen V. Faraone, Roy H. Perlis, Alysa E. Doyle +4 · 48 citations
    Medicine · Neuroscience · Psychology · #Attention Deficit Hyperactivity Disorder #Attention deficit hyperactivity disorder #Behavioural genetics #Biology #Candidate gene #Clinical psychology #Evolutionary biology #Extant taxon #Functional Brain Connectivity Studies #Gene #Genetic architecture #Genetic association #Genetic variants #Genetics #Genome-wide association study #Genotype #Heritability #Missing heritability problem #Molecular genetics #Psychology #Quantitative trait locus #Single-nucleotide polymorphism #Twin study
  5. A genomic mutational constraint map using variation in 76,156 human genomes
    2023/12/06 by Siwei Chen, Laurent C. Francioli, Julia K. Goodrich +254 · 70 citations
    Biochemistry, Genetics and Molecular Biology · #Genomic variations and chromosomal abnormalities #Genomics and Chromatin Dynamics #Genomics and Rare Diseases
  6. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
    2009/07/01 by Shaun Purcell, Jennifer Stone, Pamela Sklar +71 · 13 citations
    Biochemistry, Genetics and Molecular Biology · Psychology · #Biology #Bipolar disorder #Cognition #Gene #Genetic Associations and Epidemiology #Genetics #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases #Genotype #Polygenic risk score #Psychiatry #Psychology #Schizophrenia (object-oriented programming) #Single-nucleotide polymorphism #Variation (astronomy)
  7. Estimation of SNP Heritability from Dense Genotype Data
    2013/12/01 by S. Hong Lee, Sang Lee, Jian Yang +16 · 28 citations
    Biochemistry, Genetics and Molecular Biology · #Biology #Cancer-related molecular mechanisms research #Gene #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock #Genetic architecture #Genetics #Genome-wide association study #Genotype #Heritability #Hum #MEDLINE #Quantitative trait locus #SNP #Scopus #Single-nucleotide polymorphism
  8. Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases
    2016/04/11 by Rong Chen, Lisong Shi, Jörg Hakenberg +36 · 1 voice · 6 citations
    Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases
  9. Rare coding variants in ten genes confer substantial risk for schizophrenia
    2022/04/08 by Tarjinder Singh, Timothy Poterba, David Curtis +97 · 1 voice · 8 citations
    Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases
  10. Genetics of bipolar disorder
    2013/05/01 by Nick Craddock, Pamela Sklar · 3 citations
    Biochemistry, Genetics and Molecular Biology · Medicine · #Bipolar Disorder and Treatment #Genetic Associations and Epidemiology #Genetic Syndromes and Imprinting
  11. Evaluating historical candidate genes for schizophrenia
    2015/03/10 by Martilias S. Farrell, M S Farrell, Thomas Werge +15 · 2 citations
    Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases
  12. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
    2013/08/11 by S Hong Lee, Bryan Mowry, E Byrne +97 · 2 citations
    Biochemistry, Genetics and Molecular Biology · #Genetic Associations and Epidemiology #Genetics and Neurodevelopmental Disorders #Genomics and Rare Diseases #Biology #Single-nucleotide polymorphism #Genome-wide association study #Genetics #Genome #Computational biology #Gene #Genotype