It is commonly thought that human genetic diversity in non-African populations was shaped
primarily by an out-of-Africa dispersal 50–100 thousand yr ago (kya). Here, we present a …

DNA sequence variants in specific genes or regions of the human genome are responsible
for a variety of phenotypes such as disease risk or variable drug response 1 . These variants …

MultiPLX is a new program for automatic grouping of PCR primers. It can use many different
parameters to estimate the compatibility of primers, such as primer–primer interactions, …

Pharmacogenomics aims to tailor pharmacological treatment to each individual by considering
associations between genetic polymorphisms and adverse drug effects (ADEs). With …

We have developed a computational method that counts the frequencies of unique k-mers
in FASTQ-formatted genome data and uses this information to infer the genotypes of known …

Tribbles homolog 3 (TRIB3) is pseudokinase involved in intracellular regulatory processes
and has been implicated in several diseases. In this article, we report that human TRIB3 …

SNPmasker is a comprehensive web interface for masking large eukaryotic genomes. The
program is designed to mask SNPs from recent dbSNP database and to mask the repeats …

Background Recently, alignment-free sequence analysis methods have gained popularity in
the field of personal genomics. These methods are based on counting frequencies of short k…

Motivation Accurate estimation of next-generation sequencing depth of coverage is needed
for detecting the copy number of repeated elements in the human genome. The common …

KATK is a fast and accurate software tool for calling variants directly from raw next‐generation
sequencing reads. It uses predefined k‐mers to retrieve only the reads of interest from the …