EMBL
Medulloblastoma Long-Read Sequences Reveal Complex Rearrangements, Methylation Changes
With Oxford Nanopore sequencing, researchers found DNA methylation clues and complex rearrangement patterns that were subsequently assessed in a broader cancer set.
Researchers paired a modified 10x Genomics single-cell library preparation protocol with a Bayesian model to infer relationships between cells based on mutations.
UK Biobank Copy Number-Based GWAS Discovers New Associations With Human Traits
Using new CNV analysis tools called CNest, researchers found almost 900 ties between CNVs and phenotypes in exome sequencing data from the UK Biobank.
Genomic Study Reveals Recurrent Inversion Variants, Instability Effects
Genomic data for 41 individuals representing 82 haplotypes helped unearth recurrent inversion polymorphisms, including variants overlapping with disease-related sites.
Gut Microbiome Shifts in Pancreatic Cancer Patients Point to Predictive Potential
Metagenomic and targeted sequencing analyses on stool and saliva samples suggest gut microbiome profiling may help find those at risk of pancreatic ductal adenocarcinoma.