Centre for Population Genomics

Publications

Reports and White Papers

CPG Reports (2023) Co-Design Workshops with NSW Filipino Australians: Outreach and communications to recruit participants to the OurDNA Program, Centre for Population Genomics, Garvan Institute of Medical Research & Murdoch Children's Research Institute, Sydney & Melbourne, Australia.

CPG Reports (2022) Diversity in genetic services and genomic datasets: A 2021 survey of clinical geneticists and genetic counsellors working in Australia, Centre for Population Genomics, Garvan Institute of Medical Research & Murdoch Children's Research Institute, Sydney & Melbourne, Australia. 

Croy, S., Ambegaokar, M., & MacArthur, D.G. (2021) Towards an Inclusive Genomics, Centre for Population Genomics, Garvan Institute of Medical Research & Murdoch Children's Research Institute, Sydney & Melbourne, Australia.

Publication Profiles

For a comprehensive list of Daniel MacArthur's publications and scholarly works, visit PubMed and Google Scholar.

Recent Publications

An updated list of recent publications will be included here soon.
 
In the meantime, see Daniel MacArthur's recent publications by visiting PubMed and Google Scholar.

Reviews and Perspectives

Pais LS, Snow H, Weisburd B, Zhang S, Baxter SM, DiTroia S, O'Heir E, England E, Chao KR, Lemire G, Osei-Owusu I, VanNoy GE, Wilson M, Nguyen K, Arachchi H, Phu W, Solomonson M, Mano S, O'Leary M, Lovgren A, Babb L, Austin-Tse CA, Rehm HL, MacArthur DG, O'Donnell-Luria A. seqr: A web-based analysis and collaboration tool for rare disease genomics. Hum Mutat. 2022 Jun;43(6):698-707. doi: 10.1002/humu.24366. Epub 2022 Mar 21. PMID: 35266241.

Gudmundsson S, Singer-Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M; Genome Aggregation Database Consortium, Rehm HL, MacArthur DG, O'Donnell-Luria A. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat. 2022 Aug;43(8):1012-1030. doi: 10.1002/humu.24309. Epub 2021 Dec 16. PMID: 34859531; PMCID: PMC9160216.

Lappalainen T, MacArthur DG. From variant to function in human disease genetics. Science. 2021 Sep 24;373(6562):1464-1468. doi: 10.1126/science.abi8207. Epub 2021 Sep 23. PMID: 34554789.

gnomAD

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME; Genome Aggregation Database Consortium, Neale BM, Daly MJ, MacArthur DG. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27. Erratum in: Nature. 2021 Feb;590(7846):E53. Erratum in: Nature. 2021 Sep;597(7874):E3-E4. PMID: 32461654; PMCID: PMC7334197.

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. Evaluating drug targets through human loss-of-function genetic variation. Nature. 2020 May;581(7809):459-464. doi: 10.1038/s41586-020-2267-z. Epub 2020 May 27. Erratum in: Nature. 2021 Feb;590(7846):E56. PMID: 32461653; PMCID: PMC7272226.

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. A structural variation reference for medical and population genetics. Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Erratum in: Nature. 2021 Feb;590(7846):E55. PMID: 32461652; PMCID: PMC7334194.

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. Transcript expression-aware annotation improves rare variant interpretation. Nature. 2020 May;581(7809):452-458. doi: 10.1038/s41586-020-2329-2. Epub 2020 May 27. Erratum in: Nature. 2021 Feb;590(7846):E54. PMID: 32461655; PMCID: PMC7334198.

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. The effect of LRRK2 loss-of-function variants in humans. Nat Med. 2020 Jun;26(6):869-877. doi: 10.1038/s41591-020-0893-5. Epub 2020 May 27. Erratum in: Nat Med. 2021 Feb;27(2):355. PMID: 32461697; PMCID: PMC7303015.

Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DG, Roberts AM, Quaife NM, Schafer S, Rackham O, Alföldi J, O'Donnell-Luria AH, Francioli LC; Genome Aggregation Database Production Team; Genome Aggregation Database Consortium, Cook SA, Barton PJR, MacArthur DG, Ware JS. Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020 May 27;11(1):2523. doi: 10.1038/s41467-019-10717-9. Erratum in: Nat Commun. 2021 Feb 2;12(1):839. PMID: 32461616; PMCID: PMC7253449.

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. Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun. 2020 May 27;11(1):2539. doi: 10.1038/s41467-019-12438-5. Erratum in: Nat Commun. 2021 Feb 2;12(1):827. PMID: 32461613; PMCID: PMC7253413.

01/09/2022

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20/06/2022

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09/08/2022

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