Genome-wide single-cell analysis represents the ultimate frontier of genomics research. In
particular, single-cell RNA-sequencing (scRNA-seq) studies have been boosted in the last …

Current inflammatory bowel disease (IBD) therapies are ineffective in a high proportion of
patients. Combining bulk and single-cell transcriptomics, quantitative histopathology and in …

The emergence of next-generation sequencing (NGS) technologies has revolutionized the
way to investigate the microbial diversity in traditional fermentations. In the field of food …

Single-cell RNA sequencing (scRNA-seq) offers new possibilities to address biological and
medical questions. However, systematic comparisons of the performance of diverse scRNA …

Diabetes is a global health problem caused primarily by the inability of pancreatic β-cells to
secrete adequate levels of insulin. The molecular mechanisms underlying the progressive …

Background: Given the demonstrated utility of Third Generation Sequencing [Pacific
Biosciences (PacBio) and Oxford Nanopore Technologies (ONT)] long reads in many …

Cell-free circulating tumour DNA (ctDNA) in plasma has been shown to be informative of the
genomic alterations present in tumours and has been used to monitor tumour progression …

Whole-genome sequencing has become an indispensible tool of modern biology. However,
the cost of sample preparation relative to the cost of sequencing remains high, especially for …

Illumina sequencing allows rapid, cheap and accurate whole genome bacterial analyses,
but short reads (< 300 bp) do not usually enable complete genome assembly. Long-read …

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