Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations - Hu, Yi-Juan; Li, Yun; Auer, Paul L.; Lin, Dan-Yu (Proceedings of the National Academy of Sciences - PNAS, 2015)
Keywords: Biological Sciences; DNA Mutational Analysis - methods; Genetic Diseases, Inborn - genetics; genetic variation; Genetics; Genomics; Genotype; Genotype & phenotype; Genotypes; genotyping; Genotyping Techniques - methods; Health promotion; high-throughput nucleotide sequencing; Humans; Models, Genetic; Mutation; Oligonucleotide Array Sequence Analysis - methods; Physical Sciences; Sampling techniques; Simulation; Software; data integration; whole-exome sequencing; gene-level association tests; genotype imputation; linkage disequilibrium