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2020 6
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Page 1
A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
The effect of LRRK2 loss-of-function variants in humans.
Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, 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 JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team; 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. Whiffin N, et al. Nat Med. 2020 Jun;26(6):869-877. doi: 10.1038/s41591-020-0893-5. Epub 2020 May 27. Nat Med. 2020. PMID: 32461697 Free PMC article.
Evaluating drug targets through human loss-of-function genetic variation.
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. Minikel EV, et al. Nature. 2020 May;581(7809):459-464. doi: 10.1038/s41586-020-2267-z. Epub 2020 May 27. Nature. 2020. PMID: 32461653 Free PMC article.
Transcript expression-aware annotation improves rare variant interpretation.
Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Daly MJ, MacArthur DG. Cummings BB, et al. Nature. 2020 May;581(7809):452-458. doi: 10.1038/s41586-020-2329-2. Epub 2020 May 27. Nature. 2020. PMID: 32461655 Free PMC article.
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Karczewski KJ, MacArthur DG. Wang Q, et al. Nat Commun. 2020 May 27;11(1):2539. doi: 10.1038/s41467-019-12438-5. Nat Commun. 2020. PMID: 32461613 Free PMC article.
Author Correction: Transcript expression-aware annotation improves rare variant interpretation.
Cummings BB, Karczewski KJ, Kosmicki JA, Seaby EG, Watts NA, Singer-Berk M, Mudge JM, Karjalainen J, Satterstrom FK, O'Donnell-Luria AH, Poterba T, Seed C, Solomonson M, Alföldi J; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Daly MJ, MacArthur DG. Cummings BB, et al. Nature. 2021 Feb;590(7846):E54. doi: 10.1038/s41586-020-03175-7. Nature. 2021. PMID: 33536626 Free PMC article. No abstract available.
Author Correction: The effect of LRRK2 loss-of-function variants in humans.
Whiffin N, Armean IM, Kleinman A, Marshall JL, Minikel EV, Goodrich JK, Quaife NM, 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 JS, Havulinna AS, Iliadou B, Lee JJ, Nadkarni GN, Whiteman C; 23andMe Research Team; 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. Whiffin N, et al. Nat Med. 2021 Feb;27(2):355. doi: 10.1038/s41591-020-01185-6. Nat Med. 2021. PMID: 33483629 Free PMC article. No abstract available.
Author Correction: Evaluating drug targets through human loss-of-function genetic variation.
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. Minikel EV, et al. Nature. 2021 Feb;590(7846):E56. doi: 10.1038/s41586-020-03177-5. Nature. 2021. PMID: 33536628 Free PMC article. No abstract available.
Author Correction: A structural variation reference for medical and population genetics.
Collins RL, Brand H, Karczewski KJ, Zhao X, Alföldi J, Francioli LC, Khera AV, Lowther C, Gauthier LD, Wang H, Watts NA, Solomonson M, O'Donnell-Luria A, Baumann A, Munshi R, Walker M, Whelan CW, Huang Y, Brookings T, Sharpe T, Stone MR, Valkanas E, Fu J, Tiao G, Laricchia KM, Ruano-Rubio V, Stevens C, Gupta N, Cusick C, Margolin L; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Taylor KD, Lin HJ, Rich SS, Post WS, Chen YI, Rotter JI, Nusbaum C, Philippakis A, Lander E, Gabriel S, Neale BM, Kathiresan S, Daly MJ, Banks E, MacArthur DG, Talkowski ME. Collins RL, et al. Nature. 2021 Feb;590(7846):E55. doi: 10.1038/s41586-020-03176-6. Nature. 2021. PMID: 33536627 Free PMC article. No abstract available.
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes.
Wang Q, Pierce-Hoffman E, Cummings BB, Alföldi J, Francioli LC, Gauthier LD, Hill AJ, O'Donnell-Luria AH; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Karczewski KJ, MacArthur DG. Wang Q, et al. Nat Commun. 2021 Feb 2;12(1):827. doi: 10.1038/s41467-021-21077-8. Nat Commun. 2021. PMID: 33531481 Free PMC article. No abstract available.
12 results