标题/作者	年份
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank JD Szustakowski, S Balasubramanian, E Kvikstad, S Khalid, PG Bronson, ... Nature genetics 53 (7), 942-948	2021
Open Targets Platform: supporting systematic drug–target identification and prioritisation D Ochoa, A Hercules, M Carmona, D Suveges, A Gonzalez-Uriarte, ... Nucleic acids research 49 (D1), D1302-D1310	2021
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics M Ghoussaini, E Mountjoy, M Carmona, G Peat, EM Schmidt, A Hercules, ... Nucleic acids research 49 (D1), D1311-D1320	2021
Interpretation of risk loci from genome-wide association studies of Alzheimer's disease SJ Andrews, B Fulton-Howard, A Goate The Lancet Neurology 19 (4), 326-335	2020
Rare variant contribution to human disease in 281,104 UK Biobank exomes Q Wang, RS Dhindsa, K Carss, AR Harper, A Nag, I Tachmazidou, ... Nature 597 (7877), 527-532	2021
Utilizing graph machine learning within drug discovery and development T Gaudelet, B Day, AR Jamasb, J Soman, C Regep, G Liu, JBR Hayter, ... Briefings in bioinformatics 22 (6), bbab159	2021
Artificial intelligence in drug discovery: what is realistic, what are illusions? Part 1: Ways to make an impact, and why we are not there yet A Bender, I Cortés-Ciriano Drug discovery today 26 (2), 511-524	2021
Translational genomics and precision medicine: Moving from the lab to the clinic E Zeggini, AL Gloyn, AC Barton, LV Wain Science 365 (6460), 1409-1413	2019
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease CA Emdin, ME Haas, AV Khera, K Aragam, M Chaffin, D Klarin, G Hindy, ... PLoS genetics 16 (4), e1008629	2020
Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes CC Robertson, JRJ Inshaw, S Onengut-Gumuscu, WM Chen, ... Nature genetics 53 (7), 962-971	2021
Evaluating drug targets through human loss-of-function genetic variation EV Minikel, KJ Karczewski, HC Martin, BB Cummings, N Whiffin, ... Nature 581 (7809), 459-464	2020
Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants DJM Crouch, WF Bodmer Proceedings of the National Academy of Sciences 117 (32), 18924-18933	2020
Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles H Hautakangas, BS Winsvold, SE Ruotsalainen, G Bjornsdottir, ... Nature genetics 54 (2), 152-160	2022
Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus DJ Downes, AR Cross, P Hua, N Roberts, R Schwessinger, AJ Cutler, ... Nature genetics 53 (11), 1606-1615	2021
The genetics of asthma and the promise of genomics-guided drug target discovery ZW El-Husseini, R Gosens, F Dekker, GH Koppelman The Lancet Respiratory Medicine 8 (10), 1045-1056	2020
Translating genetic risk of Alzheimer’s disease into mechanistic insight and drug targets A Sierksma, V Escott-Price, B De Strooper Science 370 (6512), 61-66	2020
Mendelian randomization for studying the effects of perturbing drug targets D Gill, MK Georgakis, VM Walker, AF Schmidt, A Gkatzionis, DF Freitag, ... Wellcome open research 6	2021
Unique roles of rare variants in the genetics of complex diseases in humans Y Momozawa, K Mizukami Journal of human genetics 66 (1), 11-23	2021
Synergistic insights into human health from aptamer-and antibody-based proteomic profiling M Pietzner, E Wheeler, J Carrasco-Zanini, ND Kerrison, E Oerton, ... Nature communications 12 (1), 6822	2021
From variant to function in human disease genetics T Lappalainen, DG MacArthur Science 373 (6562), 1464-1468	2021

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