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Cotton Seed
Cotton Seed
Broad Institute of MIT and Harvard
Adresă de e-mail confirmată pe alum.mit.edu
Titlu
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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
82142020
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
11802019
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
8322021
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
4122024
Whole-genome sequencing reveals host factors underlying critical COVID-19
A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ...
Nature 607 (7917), 97-103, 2022
3012022
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
2392022
Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHP. B capsids
Q Huang, KY Chan, IG Tobey, YA Chan, T Poterba, CL Boutros, ...
PloS one 14 (11), e0225206, 2019
2232019
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
1922020
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals
P Natarajan, GM Peloso, SM Zekavat, M Montasser, A Ganna, M Chaffin, ...
Nature communications 9 (1), 3391, 2018
1742018
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
KJ Karczewski, M Solomonson, KR Chao, JK Goodrich, G Tiao, W Lu, ...
Cell Genomics 2 (9), 2022
1702022
Genome Aggregation Database C, Neale BM, Daly MJ, MacArthur DG (2020) The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alfoldi, Q Wang, ...
Nature 581 (7809), 434-443, 0
123
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
A Ganna, G Genovese, DP Howrigan, A Byrnes, MI Kurki, SM Zekavat, ...
Nature neuroscience 19 (12), 1563-1565, 2016
1162016
Loss landscapes of regularized linear autoencoders
D Kunin, J Bloom, A Goeva, C Seed
International conference on machine learning, 3560-3569, 2019
1082019
Deep coverage whole genome sequences and plasma lipoprotein (a) in individuals of European and African ancestries
SM Zekavat, S Ruotsalainen, RE Handsaker, M Alver, J Bloom, T Poterba, ...
Nature communications 9 (1), 2606, 2018
1072018
Method and apparatus for optimizing code
WL Harrison III, C Seed
US Patent 7,140,006, 2006
842006
A link-splitting spectral sequence in Khovanov homology
J Batson, C Seed
672015
Curl: a gentle slope language for the Web.
M Hostetter, DA Kranz, C Seed, C Terman, S Ward
World Wide Web J. 2, 121-134, 1997
561997
A second update on mapping the human genetic architecture of COVID-19
M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale, M Daly, A Ganna, ...
Nature 621 (7977), E7-E26, 2023
472023
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
442021
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
M D’Antonio, JP Nguyen, TD Arthur, H Matsui, BM Neale, M Daly, ...
Cell reports 37 (7), 2021
392021
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