Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Genome Aggregation Database Consortium"'
Autor:
Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Multi-nucleotide variants (MNV) are genetic variants in close proximity of each other on the same haplotype whose functional impact is difficult to predict if they reside in the same codon. Here, Wang et al. use the gnomAD dataset to assemble a catal
Externí odkaz:
https://doaj.org/article/053a200a4cea4fb997d382b7e041c377
Autor:
Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Upstream open reading frames (uORFs), located in 5’ untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically ass
Externí odkaz:
https://doaj.org/article/a1456bc16ed6477cb17105e2253718e3
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Autor:
Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21077-8.
Externí odkaz:
https://doaj.org/article/d976760a830d4bd1bd7c8f3c58d72666
Autor:
Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-1 (2021)
A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21052-3
Externí odkaz:
https://doaj.org/article/95ff9daf50d0425fbdccd286a23ed83e
Autor:
Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Francioli, Laurent, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Lehtimäki, Terho, Mattila, Kari M., Suvisaari, Jaana
Publikováno v:
Nature
The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A notable example of this challen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c686e36d46187245db7b242ea0302305
https://trepo.tuni.fi/handle/10024/128032
https://trepo.tuni.fi/handle/10024/128032
Autor:
Whiffin, N, Armean, IM, Kleinman, A, Marshall, JL, Minikel, EV, Goodrich, JK, Quaife, N, Cole, JB, Wang, Q, Karczewski, KJ, Cummings, BB, Francioli, L, Laricchia, K, Guan, A, Alipanahi, B, Morrison, P, Baptista, MAS, Merchant, KM, Genome Aggregation Database Production Team^, Genome Aggregation Database Consortium, Ware, J, Havulinna, AS, Iliadou, B, Lee, J-J, Nadkarni, GN, Whiteman, C, Daly, M, Esko, T, Hultman, C, Loos, RJF, Milani, L, Palotie, A, Pato, C, Pato, M, Saleheen, D, Sullivan, PF, Alföldi, J, Cannon, P, MacArthur, DG
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation, and can be valuable indicators of gene function and the potential toxicity of therapeutic in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::4e37a64e74f116dc45d95c97484b4984
http://hdl.handle.net/10044/1/79583
http://hdl.handle.net/10044/1/79583
Autor:
Minikel, EV, Karczewski, KJ, Martin, HC, Cummings, BB, Whiffin, N, Rhodes, D, Alföldi, J, Trembath, RC, Van Heel, DA, Daly, MJ, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Schreiber, SL, MacArthur, DG
Naturally occurring human genetic variants predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements cell and model organism knockout studies. Here we report three key findings regarding assessm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::852609b83ffbece9686f0fdb2001d3b7
http://hdl.handle.net/10044/1/78192
http://hdl.handle.net/10044/1/78192
Autor:
Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Armean, Irina M., Banks, Eric, Bergelson, Louis, Cibulskis, Kristian, Collins, Ryan L., Connolly, Kristen M., Covarrubias, Miguel, Cummings, Beryl, Daly, Mark J., Donnelly, Stacey, Farjoun, Yossi, Ferriera, Steven, Gabriel, Stacey, Gauthier, Laura D., Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Laricchia, Kristen M., Llanwarne, Christopher, Minikel, Eric V., Munshi, Ruchi, Neale, Benjamin M., Novod, Sam, Petrillo, Nikelle, Poterba, Timothy, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Samocha, Kaitlin E., Schleicher, Molly, Seed, Cotton, Solomonson, Matthew, Soto, Jose, Lehtimäki, Terho, Mattila, Kari M., Suvisaari, Jaana
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications
Nature Communications
Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide study using 15,708 whole genom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600861d7e3be0798966d620f7d7daf26
http://hdl.handle.net/10044/1/79435
http://hdl.handle.net/10044/1/79435