Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Genome-wide association studies (GWASs) have focused primarily on populations of
European descent, but it is essential that diverse populations become better represented …

Haplotype phasing is the estimation of haplotypes from genotype data. We present a fast,
accurate, and memory-efficient haplotype phasing method that scales to large-scale SNP …

Typical genotyping workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …

Abstract Characterization of genetic regulatory variants acting on livestock gene expression
is essential for interpreting the molecular mechanisms underlying traits of economic value …

Along with the development of high-throughput sequencing technologies, both sample size
and SNP number are increasing rapidly in genome-wide association studies (GWAS), and …

Gains and losses of DNA are prevalent in cancer and emerge as a consequence of inter-
related processes of replication stress, mitotic errors, spindle multipolarity and breakage …

The origin of domesticated Asian rice (Oryza sativa L.) has been controversial for more than
half a century. The debates have focused on two leading hypotheses: a single domestication …

The number of human genomes being genotyped or sequenced increases exponentially
and efficient haplotype estimation methods able to handle this amount of data are now …

Genetic studies have revealed many variant loci that are associated with immune-mediated
diseases. To elucidate the disease pathogenesis, it is essential to understand the function of …