With the rapid development of next-generation sequencing technology, ever-increasing
quantities of genomic data pose a tremendous challenge to data processing. Therefore …

Abstract Background Use of the Genome Analysis Toolkit (GATK) continues to be the
standard practice in genomic variant calling in both research and the clinic. Recently the …

We present elPrep 4, a reimplementation from scratch of the elPrep framework for
processing sequence alignment map files in the Go programming language. elPrep 4 …

Background Simple Sequence Repeats (SSRs) are short tandem repeats of nucleotide
sequences. It has been shown that SSRs are associated with human diseases and are of …

Due to the rapid decrease in the cost of NGS (Next Generation Sequencing), interest has
increased in using data generated from NGS to diagnose genetic diseases. However, the …

Currently, there is a widespread introduction of quantum technologies in human activity. The
prospects of quantum technologies use for the needs of biomedicine are considered. The …

Next generation sequencing (NGS) technologies produce a huge amount of biological data,
which poses various issues such as requirements of high processing time and large …

Cancer is a complicated disease with many molecular changes driven by hereditary,
environmental, and lifestyle factors. Cancer cells develop abnormalities that alter the cells …

Background The advance of next generation sequencing enables higher throughput with
lower price, and as the basic of high-throughput sequencing data analysis, variant calling is …

Motivation Since the first human genome was sequenced in 2001, there has been a rapid
growth in the number of bioinformatic methods to process and analyze next-generation …