Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …

Whole-genome sequencing (WGS) is a fundamental technology for research to advance
precision medicine, but the limited availability of portable and user-friendly workflows for …

Importance Worldwide, preterm birth (PTB) is the single largest cause of deaths in the
perinatal and neonatal period and is associated with increased morbidity in young children …

Copy-number aberrations (CNAs) and whole-genome duplications (WGDs) are frequent
somatic mutations in cancer but their quantification from DNA sequencing of bulk tumor …

Background At diagnosis tumours are typically composed of a mixture of genomically distinct
malignant cell populations. Bulk sequencing of tumour samples coupled with computational …

In humans, most germline mutations are inherited from the father. This observation has been
widely interpreted as reflecting the replication errors that accrue during spermatogenesis. If …

Tumor DNA sequencing data can be interpreted by computational methods that analyze
genomic heterogeneity to infer evolutionary dynamics. A growing number of studies have …

Background Tumor mutational burden (TMB; the quantity of aberrant nucleotide sequences
a given tumor may harbor) has been associated with response to immune checkpoint …

A challenge of next generation sequencing is read contamination. We use Genotype-Tissue
Expression (GTEx) datasets and technical metadata along with RNA-seq datasets from other …

It is challenging to identify somatic variants from high-throughput sequence reads due to
tumor heterogeneity, sub-clonality, and sequencing artifacts. In this study, we evaluated the …