Novel PCR assay for the identification of two transmissible cancers in Cerastoderma edule.

Transmissible cancers are a rare phenomenon in which cancer cells are passed between individuals, leading to the development of neoplasia in the host organism. Transmissible cancers have been identified in three independent clonal lineages in mammals and eight different clonal lineages in bivalves. This study focused on the development of a multiplex PCR assay for the detection of two types of bivalve transmissible neoplasias (BTN) of cockles Cerastoderma edule (CedBTN1 and CedBTN2).

Haplotype-resolved diverse human genomes and integrated analysis of structural variation.

Long-read and strand-specific sequencing technologies together facilitate the de novo assembly of high-quality haplotype-resolved human genomes without parent-child trio data. We present 64 assembled haplotypes from 32 diverse human genomes. These highly contiguous haplotype assemblies (average minimum contig length needed to cover 50% of the genome: 26 million base pairs) integrate all forms of genetic variation, even across complex loci.

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition.

About half of all cancers have somatic integrations of retrotransposons. Here, to characterize their role in oncogenesis, we analyzed the patterns and mechanisms of somatic retrotransposition in 2,954 cancer genomes from 38 histological cancer subtypes within the framework of the Pan-Cancer Analysis of Whole Genomes (PCAWG) project. We identified 19,166 somatically acquired retrotransposition events, which affected 35% of samples and spanned a range of event types.