DNA sequencing articles from across Nature Portfolio

In this Review, the authors compare the characteristics and detection methods of germline and somatic variants. Furthermore, they outline how the interplay between the two types of genetic variation can affect human health.

In this Tools of the Trade article, Dongsheng Bai and Chenxu Zhu describe SIMPLE-seq, a scalable single-cell sequencing method that simultaneously decodes the cytosine modifications 5mC and 5hmC.

In this Tools of the Trade article, Kaile Wang describes the development and use of Arc-well, a high-throughput single-cell DNA sequencing method tailored to analyse archival formalin-fixed paraffin-embedded (FFPE) materials.

Cutting edge imaging techniques reveal how cells organise as the heart develops.

In collecting genomic data for Indigenous Australians, scientists hope to expand knowledge of human genetic diversity and improve health for this group.

A monumental challenge to scientists due to its repetitive sequences, the human Y chromosome has now been fully sequenced — revealing new structures in regions critical for fertility.