The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 581 (7809), 434-443, 2020 | 8548 | 2020 |
The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016 | 1299 | 2016 |
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... biorxiv, 531210, 2019 | 1241 | 2019 |
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico AL Williams, SBR Jacobs, H Moreno-Macías, A Huerta-Chagoya, ... Nature 506 (7486), 97-101, 2014 | 571 | 2014 |
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes J Flannick, G Thorleifsson, NL Beer, SBR Jacobs, N Grarup, NP Burtt, ... Nature genetics 46 (4), 357-363, 2014 | 557 | 2014 |
A genomic mutational constraint map using variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... Nature 625 (7993), 92-100, 2024 | 543 | 2024 |
Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases Y Chen, T Lu, U Pettersson-Kymmer, ID Stewart, G Butler-Laporte, ... Nature genetics 55 (1), 44-53, 2023 | 432 | 2023 |
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... BioRxiv, 2022.03. 20.485034, 2022 | 256 | 2022 |
Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platforms M Costello, M Fleharty, J Abreu, Y Farjoun, S Ferriera, L Holmes, ... BMC genomics 19, 1-10, 2018 | 254 | 2018 |
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects AA Regier, Y Farjoun, DE Larson, O Krasheninina, HM Kang, ... Nature communications 9 (1), 4038, 2018 | 212 | 2018 |
A synthetic-diploid benchmark for accurate variant-calling evaluation H Li, JM Bloom, Y Farjoun, M Fleharty, L Gauthier, B Neale, D MacArthur Nature methods 15 (8), 595-597, 2018 | 203 | 2018 |
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk A Manning, HM Highland, J Gasser, X Sim, T Tukiainen, P Fontanillas, ... Diabetes 66 (7), 2019-2032, 2017 | 56 | 2017 |
Proteome-wide Mendelian randomization implicates nephronectin as an actionable mediator of the effect of obesity on COVID-19 severity S Yoshiji, G Butler-Laporte, T Lu, JDS Willett, CY Su, T Nakanishi, ... Nature Metabolism 5 (2), 248-264, 2023 | 52 | 2023 |
Cost-efficient whole genome-sequencing using novel mostly natural sequencing-by-synthesis chemistry and open fluidics platform G Almogy, M Pratt, F Oberstrass, L Lee, D Mazur, N Beckett, O Barad, ... BioRxiv, 2022.05. 29.493900, 2022 | 49 | 2022 |
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ... Nature 597 (7874), E3-E4, 2021 | 45 | 2021 |
Systematic comparison of monoclonal versus polyclonal antibodies for mapping histone modifications by ChIP-seq M Busby, C Xue, C Li, Y Farjoun, E Gienger, I Yofe, A Gladden, ... Epigenetics & chromatin 9, 1-16, 2016 | 45 | 2016 |
Lean and deep models for more accurate filtering of SNP and INDEL variant calls S Friedman, L Gauthier, Y Farjoun, E Banks Bioinformatics 36 (7), 2060-2067, 2020 | 32 | 2020 |
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls J Flannick, C Fuchsberger, A Mahajan, TM Teslovich, V Agarwala, ... Scientific data 4 (1), 1-22, 2017 | 32 | 2017 |
An exactly conservative particle method for one dimensional scalar conservation laws Y Farjoun, B Seibold Journal of Computational Physics 228 (14), 5298-5315, 2009 | 25 | 2009 |
Detecting sample swaps in diverse NGS data types using linkage disequilibrium N Javed, Y Farjoun, TJ Fennell, CB Epstein, BE Bernstein, N Shoresh Nature Communications 11 (1), 3697, 2020 | 23 | 2020 |