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Laurent Francioli
Laurent Francioli
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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
73912020
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
11712019
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7522021
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
7502020
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Nature genetics 46 (8), 818-825, 2014
7222014
Rare coding variants in ten genes confer substantial risk for schizophrenia
T Singh, T Poterba, D Curtis, H Akil, M Al Eissa, JD Barchas, N Bass, ...
Nature 604 (7906), 509-516, 2022
4722022
Genome-wide patterns and properties of de novo mutations in humans
LC Francioli, PP Polak, A Koren, A Menelaou, S Chun, I Renkens, ...
Nature genetics 47 (7), 822-826, 2015
4122015
Alfö ldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings
Nature 581 (7809), 434-43, 2020
3352020
The Genome of the Netherlands: design, and project goals
DI Boomsma, C Wijmenga, EP Slagboom, MA Swertz, LC Karssen, ...
European journal of human genetics 22 (2), 221-227, 2014
3322014
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
1932022
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
1792020
Characteristics of de novo structural changes in the human genome
WP Kloosterman, LC Francioli, F Hormozdiari, T Marschall, JY Hehir-Kwa, ...
Genome research 25 (6), 792-801, 2015
1542015
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
1452020
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
1432024
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Q Wang, E Pierce-Hoffman, BB Cummings, J Alföldi, LC Francioli, ...
Nature communications 11 (1), 2539, 2020
1352020
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy
JJW Kuiper, J Van Setten, S Ripke, R Van ‘T Slot, F Mulder, T Missotten, ...
Human molecular genetics 23 (22), 6081-6087, 2014
1322014
Characterising the loss-of-function impact of 5’untranslated region variants in 15,708 individuals
N Whiffin, KJ Karczewski, X Zhang, S Chothani, MJ Smith, DG Evans, ...
Nature communications 11 (1), 2523, 2020
1292020
Human genetic variation alters CRISPR-Cas9 on-and off-targeting specificity at therapeutically implicated loci
S Lessard, L Francioli, J Alfoldi, JC Tardif, PT Ellinor, DG MacArthur, ...
Proceedings of the National Academy of Sciences 114 (52), E11257-E11266, 2017
1252017
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’
P Deelen, A Menelaou, EM Van Leeuwen, A Kanterakis, F Van Dijk, ...
European Journal of Human Genetics 22 (11), 1321-1326, 2014
1252014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ...
Genome biology 15, 1-18, 2014
1232014
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Articole 1–20