Background Whole genome sequencing (WGS) is becoming an important part of
epidemiological investigations of infectious diseases due to greater resolution and cost …

Variants within non-coding genomic regions can greatly affect disease. In recent years,
increasing focus has been given to these variants, and how they can alter regulatory …

Comprehensive disease gene discovery in both common and rare diseases will require the
efficient and accurate detection of all classes of genetic variation across tens to hundreds of …

Improvement of variant calling in next-generation sequence data requires a comprehensive,
genome-wide catalog of high-confidence variants called in a set of genomes for use as a …

The success of clinical genomics using next generation sequencing (NGS) requires the
accurate and consistent identification of personal genome variants. Assorted variant calling …

The development and innovation of next generation sequencing (NGS) and the subsequent
analysis tools have gain popularity in scientific researches and clinical diagnostic …

Identification of genetic variations is a central part of population and quantitative genomics
studies based on high-throughput sequencing data. Even though popular variant callers …

Objectives Single nucleotide variations (SNVs) in the cytochrome P450 (CYP) gene family
are a primary cause of interindividual differences in therapeutic effects and adverse …

While next-generation sequencing (NGS) has transformed genetic testing, it generates large
quantities of noisy data that require a significant amount of bioinformatics to generate useful …

Sequencing has revolutionized biology by permitting the analysis of genomic variation at an
unprecedented resolution. High-throughput sequencing is fast and inexpensive, making it …