| Genetic association data are broadly consistent with stabilizing selection shaping human common diseases and traits E Koch, NJ Connally, N Baya, MP Reeve, M Daly, B Neale, ES Lander, ... bioRxiv, 2024.06. 19.599789, 2024 | | 2024 |
| Genetic mapping across autoimmune diseases reveals shared associations and mechanisms MR Lincoln, N Connally, PP Axisa, C Gasperi, M Mitrovic, D van Heel, ... Nature Genetics, 1-8, 2024 | 1 | 2024 |
| Low-frequency inherited complement receptor variants are associated with purpura fulminans PK Bendapudi, S Nazeen, J Ryu, O Söylemez, A Robbins, B Rouaisnel, ... Blood 143 (11), 1032-1044, 2024 | 3 | 2024 |
| Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies S Nazeen, X Wang, D Zielinski, I Lam, E Hallacli, P Xu, E Ethier, R Strom, ... bioRxiv, 2024 | | 2024 |
| Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations SN Kobren, MA Moldovan, R Reimers, D Traviglia, X Li, D Barnum, A Veit, ... bioRxiv, 2024 | | 2024 |
| RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci S Fazal, MC Danzi, I Xu, SN Kobren, S Sunyaev, C Reuter, S Marwaha, ... Genome biology 25 (1), 39, 2024 | 3 | 2024 |
| Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic … S Jain, C Bakolitsa, EB Steven, P Radivojac, J Moult, S Repo, AH Roger, ... Genome Biology 22 (22; 25 (1): 53.), 1-46, 2024 | | 2024 |
| CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac, J Moult, S Repo, ... Genome Biology 25 (1), 1-46, 2024 | 3 | 2024 |
| Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection MJ Zhang, A Durvasula, C Chiang, EM Koch, BJ Strober, H Shi, ... Research Square, 2023 | 3 | 2023 |
| A biology-aware mutation rate model for human germline EM Koch, V Seplyarskiy, SR Sunyaev NATURE GENETICS 55 (12), 2033-2034, 2023 | | 2023 |
| A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription V Seplyarskiy, EM Koch, DJ Lee, JS Lichtman, HH Luan, SR Sunyaev Nature Genetics 55 (12), 2235-2242, 2023 | 9 | 2023 |
| Recurrent mutation in the ancestry of a rare variant J Wakeley, WT Fan, E Koch, S Sunyaev Genetics 224 (3), iyad049, 2023 | 6 | 2023 |
| The landscape of tolerated genetic variation in humans and primates H Gao, T Hamp, J Ede, JG Schraiber, J McRae, M Singer-Berk, Y Yang, ... Science 380 (6648), eabn8153, 2023 | 59 | 2023 |
| Assessment of mitochondrial genome constraint across> 50,000 individuals in gnomAD to facilitate variant interpretation NJ Lake, W Liu, KM Laricchia, G Tiao, H Zhao, SE Calvo, SR Sunyaev, ... EUROPEAN JOURNAL OF HUMAN GENETICS 31, 21-21, 2023 | | 2023 |
| Revisiting mutagenesis at non-B DNA motifs in the human genome RJ McGinty, SR Sunyaev Nature structural & molecular biology 30 (4), 417-424, 2023 | 7 | 2023 |
| FAVOR: functional annotation of variants online resource and annotator for variation across the human genome H Zhou, T Arapoglou, X Li, Z Li, X Zheng, J Moore, A Asok, S Kumar, ... Nucleic Acids Research 51 (D1), D1300-D1311, 2023 | 46 | 2023 |
| Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits S Chun, S Akle, A Teodosiadis, BE Cade, H Wang, T Sofer, DS Evans, ... PLoS Genetics 18 (12), e1010557, 2022 | 8 | 2022 |
| Quantifying constraint in the human mitochondrial genome NJ Lake, W Liu, SL Battle, KM Laricchia, G Tiao, D Puiu, AG Compton, ... bioRxiv, 2022.12. 16.520778, 2022 | 3 | 2022 |
| The missing link between genetic association and regulatory function NJ Connally, S Nazeen, D Lee, H Shi, J Stamatoyannopoulos, S Chun, ... Elife 11, e74970, 2022 | 76 | 2022 |
| AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease MA Bouzinier, D Etin, SI Trifonov, VN Evdokimova, V Ulitin, J Shen, ... Journal of Biomedical Informatics 133, 104174, 2022 | 1 | 2022 |
