DNA sequence information underpins genetic research, enabling discoveries of important
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …

All cancers carry somatic mutations. A subset of these somatic alterations, termed driver
mutations, confer selective growth advantage and are implicated in cancer development, …

Cancers acquire resistance to systemic treatment as a result of clonal evolution and
selection 1 , 2 . Repeat biopsies to study genomic evolution as a result of therapy are difficult, …

High-throughput sequencing technology enables population-level surveys of human genomic
variation. Here, we examine the joint allele frequency distributions across continental …

Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease
presentations are often undifferentiated at birth. More than 3500 monogenic diseases have …

The Tasmanian devil (Sarcophilus harrisii), the largest marsupial carnivore, is endangered
due to a transmissible facial cancer spread by direct transfer of living cancer cells through …

Circulating tumour DNA analysis can be used to track tumour burden and analyse cancer
genomes non-invasively but the extent to which it represents metastatic heterogeneity is …

To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …

Chronic lymphocytic leukemia is characterized by relapse after treatment and chemotherapy
resistance. Similarly, in other malignancies leukemia cells accumulate mutations during …

Identifying large expansions of short tandem repeats (STRs), such as those that cause
amyotrophic lateral sclerosis (ALS) and fragile X syndrome, is challenging for short-read whole-…