Roberts AM, DiStefano MT, Riggs ER, et al. Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.03.30.23287948
Publications
Weisburd B, Tiao G, Rehm HL. Insights from a genome-wide truth set of tandem repeat variation. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.05.05.539588
Ringbauer H, Huang Y, Akbari A, Mallick S, Patterson N, Reich D. ancIBD - Screening for identity by descent segments in human ancient DNA. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.03.08.531671
Wang Y, Sarfraz I, Teh WK, et al. Matrix and analysis metadata standards (MAMS) to facilitate harmonization and reproducibility of single-cell data. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.03.06.531314
Zekavat SM, Jorshery SD, Shweikh Y, et al. Insights into human health from phenome- and genome-wide analyses of UK Biobank retinal optical coherence tomography phenotypes. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.05.16.23290063
He Y, Qian DC, Diao JA, et al. Prediction and stratification of longitudinal risk for chronic obstructive pulmonary disease across smoking behaviors. medRxiv : the preprint server for health sciences. 2023. doi:10.1101/2023.04.04.23288086
Sreekanth V, Jan M, Zhao KT, et al. A molecular glue approach to control the half-life of CRISPR-based technologies. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.03.12.531757
Reich M, Tabor T, Liefeld J, et al. Genomics to Notebook (g2nb): extending the electronic notebook to address the challenges of bioinformatics analysis. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.04.04.535621
Johnston RA, Aracena KA, Barreiro LB, Lea AJ, Tung J. DNA methylation-environment interactions in the human genome. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.05.19.541437
Arp CJ, Reynders M, Sreekanth V, et al. Photoswitchable Molecular Glues Enable Optical Control of Transcription Factor Degradation. bioRxiv : the preprint server for biology. 2023. doi:10.1101/2023.04.09.536172