After many years of development, a gene therapy for haemophilia B has demonstrated effectiveness and durability, at least over a time span of three years. It has just been approved (as Hemgenix®) by the FDA in the USA and ...

DNA sequencing costs have steadily decreased during the last decade, but the dominant technology (short-read sequencing, Illumina) has seen comparatively little competition after an initial flurry. This phase is now over, ...

Genetic analysis of human populations before and after the great plague pandemic in the late Middle Ages reveals immune-related loci at which specific alleles have been selected because they conferred (partial) resistance ...

The availability of an extensive set of vertebrate genome sequences, together with large-scale transcriptome studies, has allowed the discovery of numerous non-canonical ORFs (usually quite short) with evidence of ...

Systematic screening for specific cancers has been shown to reduce cancer-specific mortality, but has not demonstrated an effect on all-cause mortality. This paradox is due to minor but frequent risks of screening bearing ...

Most sequence variants encountered in medical genetics are of unknown significance, and their interpretation is a major stumbling block. Building on the successful AlphaFold system, the DeepMind group at Google has built ...

The combination of 281 GWAS studies for adult height leads to the identification of 12,111 SNP in 7,209 loci that together account for essentially all SNP heritability for this trait: there is no longer any significant ...

Recent work on bacterial insertion sequences reveals that some of them use an RNA sequence (called Bridge RNA or Seek RNA) to define both donor and target DNA specificity. This opens the way to easy insertion of kilobase ...

Rare unrelated individuals show striking resemblance, almost as high as monozygotic twins. Extensive genetic analysis of a set of such individuals shows that every couple shares a given allele at a large set of loci, ...

Multi-Cancer Early Detection is a highly popular topic, bringing the hope of being able to detect very early, non-symptomatic cancers and allowing more successful therapy. A major company in this space is GRAIL, which has ...