Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …

Advances in next-generation sequencing (NGS) technologies have rapidly improved
sequencing fidelity and substantially decreased sequencing error rates. However, given that …

DNA mutations are the source of genetic variation within populations. The majority of
mutations with observable effects are deleterious. In humans mutations in the germ line can …

Next-generation DNA sequencing promises to revolutionize clinical medicine and basic
research. However, while this technology has the capacity to generate hundreds of billions …

Mutations in somatic cells generate a heterogeneous genomic population and may result in
serious medical conditions. Although cancer is typically associated with somatic variations …

There is a great need in biomedical and genetic research to detect DNA damage and de
novo mutations, but doing so is inherently challenging because of the rarity of these events …

We propose a new method that incorporates population re-sequencing data, distribution of
reads, and strand bias in detecting low-level mutations. The method can accurately identify …

Somatic mutations are the cause of cancer and have been implicated in other,
noncancerous diseases and aging. While clonally expanded mutations can be studied by …

Next-generation sequencing (NGS) has revolutionized genome and transcriptome analyses
in recent years. Now, a smart and simple modification termed duplex sequencing published …

Identification and quantification of low-frequency mutations remain challenging despite
improvements in the baseline error rate of next-generation sequencing technologies. Here …