A curated list of scholarly publications relevant to research, policy, and health care from the Nordic human genetics and precision medicine community and their collaborators.
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Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.
Beyter D, Ingimundardottir H, Oddsson A, Eggertsson HP, Bjornsson E, Jonsson H, Atlason BA, Kristmundsdottir S, Mehringer S, Hardarson MT, Gudjonsson SA, Magnusdottir DN, Jonasdottir A, Jonasdottir A, Kristjansson RP, Sverrisson ST, Holley G, Palsson G, Stefansson OA, Eyjolfsson G, Olafsson I, Sigurdardottir O, Torfason B, Masson G, Helgason A, Thorsteinsdottir U, Holm H, Gudbjartsson DF, Sulem P, Magnusson OT, Halldorsson BV, Stefansson K.
Nat Genet. 2021 May 10.
- Human genome sequencing has relied on short reads of DNA. In the first study of its kind, researchers applied long-read DNA sequencing on a population scale to link structural variations with traits and conditions. A press release and video interview from deCODE calls this demonstration a promise of genetic discoveries to come as the technology and data analysis develops and is applied to larger data sets. Among the findings, the authors report nearly 23,000 structural variants per person, three to five times that found in short-read data. Many structural variations correlate with gene regions implicated in diseases and traits. In one interesting example, the more repeats of one 57-base-pair motif, the taller the individual. In another, researchers found a rare deletion spanning more than 14,000 base pairs in one gene associated with lower levels of LDL cholesterol. (News story)
Image courtesy of Nature Genetics.
Biweekly List (Most Recent First)
Lack of Support for the Genes by Early Environment Interaction Hypothesis in the Pathogenesis of Schizophrenia.
Vassos E, Kou J, Tosato S, Maxwell J, Dennison CA, Legge SE, Walters JTR, Owen MJ, O'Donovan MC, Breen G, Lewis CM, Sullivan PF, Hultman C, Ruggeri M, Walshe M, Bramon E, Bergen SE, Murray RM.
Schizophr Bull. 2021 May 14:sbab052.
Factors affecting the risk of relapsing-onset and progressive-onset multiple sclerosis.
Hedström AK, Hillert J, Olsson T, Alfredsson L.
J Neurol Neurosurg Psychiatry. 2021 May 13:jnnp-2020-325688.
The CRTAC1 protein in plasma associates with osteoarthritis and predicts progression to joint replacements: a large-scale proteomics scan in Iceland.
Styrkarsdottir U, Lund SH, Saevarsdottir S, Magnusson MI, Gunnarsdottir K, Norddahl GL, Frigge ML, Ivarsdottir EV, Bjornsdottir G, Holm H, Thorgeirsson G, Rafnar T, Jonsdottir I, Ingvarsson T, Jonsson H, Sulem P, Thorsteinsdottir U, Gudbjartsson D, Stefansson K.
Arthritis Rheumatol. 2021 May 13.
Polygenic Liability and Recurrence of Depression in Patients With First-Onset Depression Treated in Hospital-Based Settings.
Musliner KL, Agerbo E, Vilhjálmsson BJ, Albiñana C, Als TD, Østergaard SD, Mortensen PB.
JAMA Psychiatry. 2021 May 12.
[Precision medicine in complex diseases].
Melén E, Jacobsson B, Benson M, Orho-Melander M, Halvarson J, Jern C.
Lakartidningen. 2021 May 11;118:20213. Swedish.
[Clinical translation of genomic medicine].
Gawel D, Bojner Horwitz E, Sysoev O, Jacobsson B, Jönsson JI, Melén E, Ynnerman A, Benson M.
Lakartidningen. 2021 May 11;118:20234. Swedish.
[Pharmacogenomics - a cornerstone of Precision Medicine. Genomic Medicine Sweden analyses genotypes associated with serious drug toxicity or therapeutic failure].
Eliasson E, Wadelius M.
Lakartidningen. 2021 May 11;118:20176. Swedish.
Associations of treated and untreated human papillomavirus infection with preterm delivery and neonatal mortality: A Swedish population-based study.
Wiik J, Nilsson S, Kärrberg C, Strander B, Jacobsson B, Sengpiel V.
PLoS Med. 2021 May 10;18(5):e1003641.
Dairy foods, calcium, and risk of breast cancer overall and for subtypes defined by estrogen receptor status: a pooled analysis of 21 cohort studies.
Wu Y, Huang R, Wang M, Bernstein L, Bethea TN, Chen C, Chen Y, Eliassen AH, Freedman ND, Gaudet MM, Gierach GL, Giles GG, Krogh V, Larsson SC, Liao LM, McCullough ML, Miller AB, Milne RL, Monroe KR, Neuhouser ML, Palmer JR, Prizment A, Reynolds P, Robien K, Rohan TE, Sandin S, Sawada N, Sieri S, Sinha R, Stolzenberg-Solomon RZ, Tsugane S, van den Brandt PA, Visvanathan K, Weiderpass E, Wilkens LR, Willett WC, Wolk A, Zeleniuch-Jacquotte A, Ziegler RG, Smith-Warner SA.
Am J Clin Nutr. 2021 May 8:nqab097.
Genome-wide association study of cardiac troponin I in the general population.
Moksnes MR, Røsjø H, Richmond A, Lyngbakken MN, Graham SE, Hansen AF, Wolford BN, Gagliano Taliun SA, LeFaive J, Rasheed H, Thomas LF, Zhou W, Aung N, Surakka I, Douville NJ, Campbell A, Porteous DJ, Petersen SE, Munroe PB, Welsh P, Sattar N, Smith GD, Fritsche LG, Nielsen JB, Åsvold BO, Hveem K, Hayward C, Willer CJ, Brumpton BM, Omland T.
Hum Mol Genet. 2021 May 7:ddab124.
Genetic Meta-Analysis of Twin Birth Weight Shows High Genetic Correlation with Singleton Birth Weight.
Beck JJ, Pool R, van de Weijer M, Chen X, Krapohl E, Gordon SD, Nygaard M, Debrabant B, Palviainen T, van der Zee MD, Baselmans B, Finnicum CT, Yi L, Lundström S, van Beijsterveldt T, Christiansen L, Heikkilä K, Kittelsrud J, Loukola A, Ollikainen M, Christensen K, Martin NG, Plomin R, Nivard M, Bartels M, Dolan C, Willemsen G, de Geus E, Almqvist C, Magnusson PKE, Mbarek H, Ehli EA, Boomsma DI, Hottenga JJ.
Hum Mol Genet. 2021 May 6:ddab121.
Polygenic liability, stressful life events and risk for secondary-treated depression in early life: a nationwide register-based case-cohort study.
Musliner KL, Andersen KK, Agerbo E, Albiñana C, Vilhjalmsson BJ, Rajagopal VM, Bybjerg-Grauholm J, Bækved-Hansen M, Pedersen CB, Pedersen MG, Munk-Olsen T, Benros ME, Als TD, Grove J, Werge T, Børglum AD, Hougaard DM, Mors O, Nordentoft M, Mortensen PB; Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Suppli NP.
Psychol Med. 2021 May 5:1-10.
The Eating Disorders Genetics Initiative (EDGI): study protocol.
Bulik CM, Thornton LM, Parker R, Kennedy H, Baker JH, MacDermod C, Guintivano J, Cleland L, Miller AL, Harper L, Larsen JT, Yilmaz Z, Grove J, Sullivan PF, Petersen LV, Jordan J, Kennedy MA, Martin NG.
BMC Psychiatry. 2021 May 4;21(1):234.
Genetic factors affect the susceptibility to bacterial infections in diabetes.
Simonsen JR, Käräjämäki A, Antikainen AA, Toppila I, Ahlqvist E, Prasad R, Mansour-Aly D, Harjutsalo V, Järvinen A, Tuomi T, Groop L, Forsblom C, Groop PH, Sandholm N, Lehto M.
Sci Rep. 2021 May 4;11(1):9464.
Next generation plasma proteome profiling to monitor health and disease.
Zhong W, Edfors F, Gummesson A, Bergström G, Fagerberg L, Uhlén M.
Nat Commun. 2021 May 3;12(1):2493.
Analysis of Diffusion Tensor Imaging Data From the UK Biobank Confirms Dosage Effect of 15q11.2 Copy Number Variation on White Matter and Shows Association With Cognition.
Silva AI, Kirov G, Kendall KM, Bracher-Smith M, Wilkinson LS, Hall J, Ulfarsson MO, Walters GB, Stefansson H, Stefansson K, Linden DEJ, Caseras X.
Biol Psychiatry. 2021 Mar 3:S0006-3223(21)01099-4.
A fast wavelet-based functional association analysis replicates several susceptibility loci for birth weight in a Norwegian population.
Denault WRP, Romanowska J, Helgeland Ø, Jacobsson B, Gjessing HK, Jugessur A.
BMC Genomics. 2021 May 2;22(1):321.
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction.
Albiñana C, Grove J, McGrath JJ, Agerbo E, Wray NR, Bulik CM, Nordentoft M, Hougaard DM, Werge T, Børglum AD, Mortensen PB, Privé F, Vilhjálmsson BJ.
Am J Hum Genet. 2021 Apr 30:S0002-9297(21)00145-2.
Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example.
Prins BP, Leitsalu L, Pärna K, Fischer K, Metspalu A, Haller T, Snieder H.
J Pers Med. 2021 Apr 29;11(5):358.
Genetic Evidence Supporting Fibroblast Growth Factor 21 Signalling as a Pharmacological Target for Cardiometabolic Outcomes and Alzheimer's Disease.
Larsson SC, Gill D.
Nutrients. 2021 Apr 29;13(5):1504.
Pharmacogenetics of angiotensin-converting enzyme inhibitor-induced angioedema.
Pall AH, Rasmussen ER, Wadelius M.
Pharmacogenomics. 2021 Apr;22(6):319-321.
Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19.
Klaric L, Gisby JS, Papadaki A, Muckian MD, Macdonald-Dunlop E, Zhao JH, Tokolyi A, Persyn E, Pairo-Castineira E, Morris AP, Kalnapenkis A, Richmond A, Landini A, Hedman ÅK, Prins B, Zanetti D, Wheeler E, Kooperberg C, Yao C, Petrie JR, Fu J, Folkersen L, Walker M, Magnusson M, Eriksson N, Mattsson-Carlgren N, Timmers PRHJ, Hwang SJ, Enroth S, Gustafsson S, Vosa U, Chen Y, Siegbahn A, Reiner A, Johansson Å, Thorand B, Gigante B, Hayward C, Herder C, Gieger C, Langenberg C, Levy D, Zhernakova DV, Smith JG, Campbell H, Sundstrom J, Danesh J, Michaëlsson K, Suhre K, Lind L, Wallentin L, Padyukov L, Landén M, Wareham NJ, Göteson A, Hansson O, Eriksson P, Strawbridge RJ, Assimes TL, Esko T, Gyllensten U, Baillie JK, Paul DS, Joshi PK, Butterworth AS, Mälarstig A, Pirastu N, Wilson JF, Peters JE.
medRxiv. 2021 Apr 7:2021.04.01.21254789. Preprint.
Propelling Healthcare with Advanced Therapy Medicinal Products: A Policy Discussion.
Horgan D, Metspalu A, Ouillade MC, Athanasiou D, Pasi J, Adjali O, Harrison P, Hermans C, Codacci-Pisanelli G, Koeva J, Szucs T, Cursaru V, Belina I, Bernini C, Zhuang S, McMahon S, Toncheva D, Thum T.
Biomed Hub. 2020 Dec 3;5(3):130-152.