The recent boom in microfluidics and combinatorial indexing strategies, combined with low
sequencing costs, has empowered single-cell sequencing technology. Thousands—or even …

While sequencing of the human genome surprised us with how many protein-coding genes
there are, it did not fundamentally change our perspective on what a gene is. In contrast, the …

The extent of tumor heterogeneity is an emerging theme that researchers are only beginning
to understand. How genetic and epigenetic heterogeneity affects tumor evolution and …

Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …

Glioblastoma multiforme (GBM) is a lethal brain tumour in adults and children. However,
DNA copy number and gene expression signatures indicate differences between adult and …

We have sequenced the genomes of 110 small cell lung cancers (SCLC), one of the deadliest
human cancers. In nearly all the tumours analysed we found bi-allelic inactivation of TP53 …

… j are within the expected insert size range. The weight of edge e v i v j , denoted as w(e v i v j
)… mapping locations of the paired-ends p i and p j , respectively. Since this is not possible for …

Structural variation of the genome involves kilobase- to megabase-sized deletions, duplications,
insertions, inversions, and complex combinations of rearrangements. We introduce high…

Coronavirus disease 2019 (COVID-19) is a mild to moderate respiratory tract infection, however,
a subset of patients progress to severe disease and respiratory failure. The mechanism …

Genomic structural variants (SVs) are abundant in humans, differing from other forms of
variation in extent, origin and functional impact. Despite progress in SV characterization, the …