Genome informatics articles from across Nature Portfolio

ProHap is a Python-based tool that constructs protein sequence databases from phased genotypes of reference panels to enable researchers to account for haplotype diversity in proteomic searches.

Copy number variants (CNVs) are the most common structural variants in human genomes however detecting them using short read sequencing is challenging. Here the authors introduce a method that uses a novel type of evidence to improve CNV detection from short reads, generating more complete CNV catalogues for both human and non-human sequencing data.

Pangenome graphs signify a new frontier in genome representation. Recent advances in constructing and personalizing them mark progress in this area.

In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.

Rahimzadeh et al. discuss the ethical, legal and social implications of storing and analysing human genomic data in the cloud and provide recommendations and new research directions for future, trustworthy cloud-based genomic data access and management.

As we age, our cells acquire DNA mutations, resulting in cell-to-cell genomic heterogeneity. We characterized the landscape of mitochondrial DNA (mtDNA) heterogeneity in healthy human cells. Our observations provide deeper insight into the frequency of new mitochondrial mutations and the mechanisms that propagate low-level mutations in mtDNA over a lifetime.