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A whole-genome view of 490,640 UK Biobank participants
A large sequencing release expands the variant landscape available for studying disease biology, ancestry and precision medicine.
5 min read · STKEY editorial deskresearch · geneticsMapping complex variation in nearly complete human genomes
A diverse set of haplotype-resolved assemblies closes difficult regions of the human genome and improves the study of structural variation.
6 min read · STKEY editorial deskresearch · genomicsThe three-dimensional genome landscape of primary human cancers
A multi-cancer analysis connects genome architecture and enhancer activity to regulatory changes in tumors.
6 min read · STKEY editorial deskresearch · genomicsThe telomere-to-telomere human genome sequence
A completed reference sequence fills repetitive regions that were missing from the first Human Genome Project reference.
5 min read · STKEY editorial deskresearch · genomicsA draft human pangenome reference
A multi-ancestry reference graph aims to represent more of the variation that a single linear genome leaves out.
5 min read · STKEY editorial deskresearch · bioinformaticsAlphaFold and the structure of proteins
Deep learning made large-scale protein-structure prediction practical, changing how researchers explore biological molecules.
5 min read · STKEY editorial deskreview · geneticsWhat the 1000 Genomes Project made visible
A global reference catalogue helped establish how common and rare variants are distributed across human populations.
4 min read · STKEY editorial deskreview · bioinformaticsgnomAD: a reference for human genetic variation
Large-scale exome and genome data provide an important frequency reference for interpreting rare variants.
4 min read · STKEY editorial deskreview · geneticsClinVar and the challenge of variant interpretation
A public archive connects human genetic variants with assertions about their clinical significance and supporting evidence.
4 min read · STKEY editorial deskreview · genomicsENCODE and the functional genome
A large consortium mapped biochemical activity across the genome to investigate how DNA sequence is regulated in cells.
5 min read · STKEY editorial deskresearch · biotechnologyBase editing: changing a letter without cutting both DNA strands
A programmable editing approach introduced a way to convert individual bases while reducing the need for double-strand breaks.
5 min read · STKEY editorial deskresearch · biotechnologyPrime editing and a broader editing design space
A CRISPR-derived system combines targeted nicking with a programmable reverse-transcription template for precise sequence changes.
5 min read · STKEY editorial deskresearch · genomicsLong-read sequencing in rare-disease diagnosis
Long reads can span repeats, structural variants and methylation patterns that are difficult to resolve with short-read sequencing.
5 min read · STKEY editorial desk