Michele Berselli

A comprehensive view of somatic mosaicism by single-cell DNA analysis

The paper uses single-cell DNA sequencing to analyze somatic mosaicism in postmortem lung and colon tissues, revealing mutation heterogeneity, chromosomal abnormalities, and cellular ancestry.

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data

The paper benchmarks somatic variant and indel detection at low allele fractions using short- and long-read data, finding sensitivity and precision around 80% at 300x coverage.

Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractions

The paper benchmarks somatic structural variant detection at ultra-low allele fractions using synthetic data and evaluates 12 pipelines, finding long-read sequencing provides higher accuracy than short-read methods.

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

GBRAP: A Comprehensive Database and Tool for Exploring Genomic Diversity Across All Domains of Life

GBRAP provides a database and tool for analyzing genomic diversity across all domains of life by offering curated genome statistics and visualization capabilities.

G-quadruplex forming sequences in the genome of all known human viruses: a comprehensive guide

The paper identifies and classifies G-quadruplex forming sequences in the genomes of all known human viruses, showing they can be used to classify viruses into families.