Regulatory genome annotation | Nature Reviews Genetics
Gerstein, M. B. et al. Architecture of the human regulatory network derived from ENCODE data. Nature 489, 91–100…
Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions
Ethics Our study complies with all relevant ethical regulations and was approved by the institutional review boards at…
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
School of Computation, Information and Technology, Technical University of Munich, Garching, Germany Vicente A. Yépez, Rebeka Luknárová, Felix Brechtmann, Leon Kraß, Shubhankar…
Robust and accurate Bayesian inference of genome-wide genealogies for hundreds of genomes
An overview of the SINGER algorithm SINGER takes in phased WGS data and samples ARGs iteratively by adding…
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy
Cancer is a genetic disease stemming from a combination of inherited and acquired mutations. Much of our understanding…
Mutational landscape of triple-negative breast cancer in African American women
Patient population Paired tumor and normal samples from 513 self-identified AA women with TNBC were interrogated by WES.…
Urbanization and genetic homogenization in the medieval Low Countries revealed through a ten-century paleogenomic study of the city of Sint-Truiden | Genome Biology
Lawson DJ, Hellenthal G, Myers S, Falush D. Inference of Population Structure using Dense Haplotype Data. Copenhaver GP,…
Methods and applications of in vivo CRISPR screening
Auton, A. et al. A global reference for human genetic variation. Nature 526, 68–74 (2015). Article PubMed Google…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…
Tracing the evolution of sequencing into the era of genomic medicine
Sanger, F., Nicklen, S. & Coulson, A. R. DNA sequencing with chain-terminating inhibitors. Proc. Natl Acad. Sci. USA…
Single-nucleus chromatin accessibility profiling identifies cell types and functional variants contributing to major depression
James, S. L. et al. Global, regional, and national incidence, prevalence, and years lived with disability for 354…
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…