Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
MicroRNAs in stress signaling and human disease
Disease is often the result of an aberrant or inadequate response to physiologic and
pathophysiologic stress. Studies over the last 10 years have uncovered a recurring …
pathophysiologic stress. Studies over the last 10 years have uncovered a recurring …
Disease variants alter transcription factor levels and methylation of their binding sites
Most disease-associated genetic variants are noncoding, making it challenging to design
experiments to understand their functional consequences,. Identification of expression …
experiments to understand their functional consequences,. Identification of expression …
Common SNPs explain a large proportion of the heritability for human height
SNPs discovered by genome-wide association studies (GWASs) account for only a small
fraction of the genetic variation of complex traits in human populations. Where is the …
fraction of the genetic variation of complex traits in human populations. Where is the …
Hundreds of variants clustered in genomic loci and biological pathways affect human height
Most common human traits and diseases have a polygenic pattern of inheritance: DNA
sequence variants at many genetic loci influence the phenotype. Genome-wide association …
sequence variants at many genetic loci influence the phenotype. Genome-wide association …
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes
Genome‐wide association studies (GWAS) can identify common alleles that contribute to
complex disease susceptibility. Despite the large number of SNPs assessed in each study …
complex disease susceptibility. Despite the large number of SNPs assessed in each study …
Epigenetic inheritance and the missing heritability
Genome-wide association studies of complex physiological traits and diseases consistently
found that associated genetic factors, such as allelic polymorphisms or DNA mutations, only …
found that associated genetic factors, such as allelic polymorphisms or DNA mutations, only …
A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution
Initially thought to play a restricted role in calcium homeostasis, the pleiotropic actions of
vitamin D in biology and their clinical significance are only now becoming apparent …
vitamin D in biology and their clinical significance are only now becoming apparent …
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
We present methods for imputing data for ungenotyped markers and for inferring haplotype
phase in large data sets of unrelated individuals and parent-offspring trios. Our methods …
phase in large data sets of unrelated individuals and parent-offspring trios. Our methods …
The genetics of human adaptation: hard sweeps, soft sweeps, and polygenic adaptation
There has long been interest in understanding the genetic basis of human adaptation. To
what extent are phenotypic differences among human populations driven by natural …
what extent are phenotypic differences among human populations driven by natural …