Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
More than 4,000 genes have been established as etiological for a rare disease, of which only 69 are…
Pan-genome analysis reveals the evolution and diversity of Malus
The Malus evolutionary genomic landscape We sequenced accessions from 30 species, de novo assembled high-quality genomes and anchored…
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism
Bizzotto, S. et al. Landmarks of human embryonic development inscribed in somatic mutations. Science 371, 1249–1253 (2021). Article …
Toxin produced by E. coli ‘could be driving bowel cancer rates in young people’ – London Evening Standard
Toxin produced by E. coli ‘could be driving bowel cancer rates in young people’ London Evening Standard Childhood toxin…
Pan-genomic analysis highlights genes associated with agronomic traits and enhances genomics-assisted breeding in alfalfa
Annicchiarico, P., Barrett, B., Brummer, E. C., Julier, B. & Marshall, A. H. Achievements and challenges in improving…
I’m a doctor – here’s why Brexit has made it harder to get life-saving drugs
Patients are losing out on life-changing drugs for cancer and rare diseases because of Brexit, experts have warned.…
Transcriptome-wide analysis of differential expression in perturbation atlases
Dixit, A. et al. Perturb-seq: dissecting molecular circuits with scalable single-cell RNA profiling of pooled genetic screens. Cell…
Genetic regulation of gene expression across multiple tissues in chickens
Hillier, L. W. & Miller, W. Sequence and comparative analysis of the chicken genome provide unique perspectives on…
Association between plausible genetic factors and weight loss from GLP1-RA and bariatric surgery
Ethics statement This study complies with all relevant ethical regulations and was conducted in accordance with the research…
The landscape of N6-methyladenosine in localized primary prostate cancer
The m6A landscape of localized prostate cancer We quantified the epitranscriptomes of 162 primary localized prostate tumors using…