Design of association studies with pooled or un-pooled next-generation sequencing data

Research output: Contribution to journalJournal articleResearchpeer-review

Su Yeon Kim, Yingrui Li, Yiran Guo, Ruiqiang Li, Johan Holmkvist, Torben Hansen, Oluf Borbye Pedersen, Jun Wang, Rasmus Nielsen

Most common hereditary diseases in humans are complex and multifactorial. Large-scale genome-wide association studies based on SNP genotyping have only identified a small fraction of the heritable variation of these diseases. One explanation may be that many rare variants (a minor allele frequency, MAF
Original languageEnglish
JournalGenetic Epidemiology
Issue number5
Pages (from-to)479-491
Number of pages13
Publication statusPublished - 2010

    Research areas

  • Alleles, Chromosome Mapping, Computer Simulation, Denmark, Genetic Predisposition to Disease, Genetic Variation, Genetics, Population, Genome-Wide Association Study, Genotype, Humans, Models, Genetic, Models, Statistical, Polymorphism, Single Nucleotide, Research Design, Sequence Analysis, DNA

ID: 35312360