DNA sequencing articles from across Nature Portfolio

A new sequencing-based method optimizes barcode-based synaptic mapping by capturing paired neuronal barcodes from intact synaptic fragments, achieving the efficiency needed to scale toward comprehensive brain connectivity maps.

It remains unclear why some BRCA-deficient high-grade serous carcinomas (HGSC) do not respond to platinum-based therapy. Here, multi-omic analysis of BRCA1- and BRCA2-deficient HGSC attributes co-occurring mutations, DNA repair deficiency and tumor microenvironment features to short survival in these patients.

Single-variant and ultrarare variant burden analyses leveraging exome sequencing data from 22 cohorts identify new risk genes for amyotrophic lateral sclerosis and show cumulative effects of several rare variants on disease risk.

An analysis of whole-exome sequencing data linked to longitudinal electronic health records from 44,028 British South Asians finds new gene–phenotype associations and identifies 2,991 genes with rare biallelic predicted loss-of-function genotypes.

Alport syndrome has diverse genetic causes that are often hard to detect. Here, the authors use a layered sequencing strategy in a large Chinese cohort to uncover coding and noncoding variants, including novel structural types, refining the genetic diagnosis of inherited kidney disease.

Pangenome analyses of 28 representative Gossypium hirsutum accessions, including a telomere-to-telomere genome for NDM13, and transcriptomic profiling across 15 tissues highlight structural variations associated with breeding traits.

A new sequencing-based method optimizes barcode-based synaptic mapping by capturing paired neuronal barcodes from intact synaptic fragments, achieving the efficiency needed to scale toward comprehensive brain connectivity maps.

The oldest dog genomes on record all come from a population that lived alongside Ice Age hunter-gatherers across Europe and the Middle East.

In a French criminal trial, conventional DNA analysis couldn’t distinguish between twin brothers, but emerging scientific methods could help in such cases.

The successful implementation of genomic newborn screening involves a wide array of ethical, legal and social implications of great complexity. The authors outline key decision points and highlight a GA4GH policy tool to support responsible, trustworthy implementation within diverse public health systems globally.