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Yossi Farjoun
Yossi Farjoun
Fulcrum Genomics
E-mail confirmado em fulcrumgenomics.com
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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
85482020
The genetic architecture of type 2 diabetes
C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ...
Nature 536 (7614), 41-47, 2016
12992016
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
12412019
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
5712014
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
5572014
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
5432024
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
4322023
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
2562022
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
2542018
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
2122018
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
2032018
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
562017
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
522023
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
492022
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
452021
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
452016
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
322020
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
322017
An exactly conservative particle method for one dimensional scalar conservation laws
Y Farjoun, B Seibold
Journal of Computational Physics 228 (14), 5298-5315, 2009
252009
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
232020
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