A curated biweekly 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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Featured
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H, Lagerstedt-Robinson K, Magnusson M, Kvarnung M, Nilsson D, Lesko N, Engvall M, Anderlid BM, Arnell H, Johansson CB, Barbaro M, Björck E, Bruhn H, Eisfeldt J, Freyer C, Grigelioniene G, Gustavsson P, Hammarsjö A, Hellström-Pigg M, Iwarsson E, Jemt A, Laaksonen M, Enoksson SL, Malmgren H, Naess K, Nordenskjöld M, Oscarson M, Pettersson M, Rasi C, Rosenbaum A, Sahlin E, Sardh E, Stödberg T, Tesi B, Tham E, Thonberg H, Töhönen V, von Döbeln U, Vassiliou D, Vonlanthen S, Wikström AC, Wincent J, Winqvist O, Wredenberg A, Ygberg S, Zetterström RH, Marits P, Soller MJ, Nordgren A, Wirta V, Lindstrand A, Wedell A. Genome Med. 2021 Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5.
• Five years ago, an academic-clinical collaboration launched a “bottom-up” approach to implement whole genome sequencing in the diagnostics of rare diseases. Large-scale genomics were integrated into the Stockholm region’s healthcare system in a workflow centered on individual patient clinical considerations. Since then, more than 1,200 people with rare diseases have received a diagnosis. The collaboration will be consolidated and expanded to other technology and disease areas in a newly established center for precision medicine. (News release.)
Bi-Weekly list (most recent first):
Genome-Wide Association Study and Identification of a Protective Missense Variant on Lipoprotein(a) Concentration: Protective Missense Variant on Lipoprotein(a) Concentration.
Said MA, Yeung MW, van de Vegte YJ, Benjamins JW, Dullaart RPF, Ruotsalainen S, Ripatti S, Natarajan P, Juarez-Orozco LE, Verweij N, van der Harst P. Arterioscler Thromb Vasc Biol. 2021 Mar 18:ATVBAHA120315300. doi: 10.1161/ATVBAHA.120.315300.
Multi-modal meta-analysis of cancer cell line omics profiles identifies ECHDC1 as a novel breast tumor suppressor.
Jaiswal A, Gautam P, Pietilä EA, Timonen S, Nordström N, Akimov Y, Sipari N, Tanoli Z, Fleischer T, Lehti K, Wennerberg K, Aittokallio T.Mol Syst Biol. 2021 Mar;17(3):e9526. doi: 10.15252/msb.20209526.
Re-defining synthetic lethality by phenotypic profiling for precision oncology.
Akimov Y, Aittokallio T.Cell Chem Biol. 2021 Mar 18;28(3):246-256. doi: 10.1016/j.chembiol.2021.01.026.
Genetic risk for Alzheimer's disease, cognition, and mild behavioral impairment in healthy older adults.
Creese B, Arathimos R, Brooker H, Aarsland D, Corbett A, Lewis C, Ballard C, Ismail Z.Alzheimers Dement (Amst). 2021 Mar 17;13(1):e12164. doi: 10.1002/dad2.12164. eCollection 2021.
Sparse deep neural networks on imaging genetics for schizophrenia case-control classification.
Chen J, Li X, Calhoun VD, Turner JA, van Erp TGM, Wang L, Andreassen OA, Agartz I, Westlye LT, Jönsson E, Ford JM, Mathalon DH, Macciardi F, O'Leary DS, Liu J, Ji S. Hum Brain Mapp. 2021 Mar 16. doi: 10.1002/hbm.25387.
The association between family history and genomic burden with schizophrenia mortality: a Swedish population-based register and genetic sample study. Kowalec K, Lu Y, Song J, Dalman C, Hultman CM, Larsson H, Lichtenstein P, Sullivan PF. Transl Psychiatry. 2021 Mar 15;11(1):163. doi: 10.1038/s41398-021-01282-1.
Huynh-Le MP, Karunamuni R, Fan CC, Thompson WK, Muir K, Lophatananon A, Tye K, Wolk A, Håkansson N, Mills IG, Andreassen OA, Dale AM, Seibert TM; PRACTICAL Consortium. Prostate Cancer Prostatic Dis. 2021 Mar 15. doi: 10.1038/s41391-021-00341-4.
Blue poo: impact of gut transit time on the gut microbiome using a novel marker. Asnicar F, Leeming ER, Dimidi E, Mazidi M, Franks P, Al Khatib H, Valdes AM, Davies R, Bakker E, Francis L, Chan A, Gibson R, Hadjigeorgiou G, Wolf J, Spector TD, Segata N, Berry SE. Gut. 2021 Mar 15:gutjnl-2020-323877. doi: 10.1136/gutjnl-2020-323877.
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.
Fridman H, Yntema HG, Mägi R, Andreson R, Metspalu A, Mezzavila M, Tyler-Smith C, Xue Y, Carmi S, Levy-Lahad E, Gilissen C, Brunner HG. Am J Hum Genet. 2021 Mar 12:S0002-9297(21)00088-4. doi: 10.1016/j.ajhg.2021.03.004.
The intersection of genetics and COVID-19 in 2021: preview of the 2021 Rodney Howell Symposium.
Rasmussen SA, Abul-Husn NS, Casanova JL, Daly MJ, Rehm HL, Murray MF. Genet Med. 2021 Mar 12:1-3. doi: 10.1038/s41436-021-01113-0.
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Runolfsdottir HL, Sayer JA, Indridason OS, Edvardsson VO, Jensson BO, Arnadottir GA, Gudjonsson SA, Fridriksdottir R, Katrinardottir H, Gudbjartsson D, Thorsteinsdottir U, Sulem P, Stefansson K, Palsson R. Eur J Hum Genet. 2021 Mar 11. doi: 10.1038/s41431-020-00805-6.
Affective disorders impact prevalence of Flavonifractor and abundance of Christensenellaceae in gut microbiota.
Coello K, Hansen TH, Sørensen N, Ottesen NM, Miskoviak K, Pedersen O, Kessing LV, Vinberg M. Prog Neuropsychopharmacol Biol Psychiatry. 2021 Mar 10:110300. doi: 10.1016/j.pnpbp.2021.110300.
Attributes and predictors of long COVID.
Sudre CH, Murray B, Varsavsky T, Graham MS, Penfold RS, Bowyer RC, Pujol JC, Klaser K, Antonelli M, Canas LS, Molteni E, Modat M, Jorge Cardoso M, May A, Ganesh S, Davies R, Nguyen LH, Drew DA, Astley CM, Joshi AD, Merino J, Tsereteli N, Fall T, Gomez MF, Duncan EL, Menni C, Williams FMK, Franks PW, Chan AT, Wolf J, Ourselin S, Spector T, Steves CJ. Nat Med. 2021 Mar 10. doi: 10.1038/s41591-021-01292-y.
The genetic history of Greenlandic-European contact.
Waples RK, Hauptmann AL, Seiding I, Jørsboe E, Jørgensen ME, Grarup N, Andersen MK, Larsen CVL, Bjerregaard P, Hellenthal G, Hansen T, Albrechtsen A, Moltke I. Curr Biol. 2021 Mar 9:S0960-9822(21)00285-2. doi: 10.1016/j.cub.2021.02.041.
STAG2 as a prognostic biomarker in low-grade non-muscle invasive bladder cancer.
Taber A, Park Y, Lelo A, Prip F, Xiao J, Berry DL, Chaldekas K, Jensen JB, Philips G, Kim JS, Harris BT, Dyrskjøt L, Waldman T.Urol Oncol. 2021 Mar 9:S1078-1439(21)00069-7. doi: 10.1016/j.urolonc.2021.02.007.
Relative and Absolute Risk to Guide the Management of Pulse Pressure, an Age-Related Cardiovascular Risk Factor.
Melgarejo JD, Thijs L, Wei DM, Bursztyn M, Yang WY, Li Y, Asayama K, Hansen TW, Kikuya M, Ohkubo T, Dolan E, Stolarz-Skrzypek K, Cheng YB, Tikhonoff V, Malyutina S, Casiglia E, Lind L, Sandoya E, Filipovský J, Narkiewicz K, Gilis-Malinowska N, Kawecka-Jaszcz K, Boggia J, Wang JG, Imai Y, Verhamme P, Trenson S, Janssens S, Brien EO, Maestre GE, Gavish B, Staessen JA, Zhang ZY. Am J Hypertens. 2021 Mar 4:hpab048. doi: 10.1093/ajh/hpab048.
Genome-wide analyses of smoking behaviors in schizophrenia: Findings from the Psychiatric Genomics Consortium.
Peterson RE, Bigdeli TB, Ripke S, Bacanu SA, Gejman PV, Levinson DF, Li QS, Rujescu D, Rietschel M, Weinberger DR, Straub RE, Walters JTR, Owen MJ, O'Donovan MC, Mowry BJ, Ophoff RA, Andreassen OA, Esko T, Petryshen TL, Kendler KS; Schizophrenia Working Group of the Psychiatric Genomics Consortium.J Psychiatr Res. 2021 Feb 18;137:215-224. doi: 10.1016/j.jpsychires.2021.02.027.
The prognostic impact of circulating homeobox A9 methylated DNA in advanced non-small cell lung cancer.
Wen SWC, Andersen RF, Hansen TF, Nyhus CH, Hager H, Hilberg O, Jakobsen A. Transl Lung Cancer Res. 2021 Feb;10(2):855-865. doi: 10.21037/tlcr-20-826.
Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum.
Yang Z, Wu H, Lee PH, Tsetsos F, Davis LK, Yu D, Lee SH, Dalsgaard S, Haavik J, Barta C, Zayats T, Eapen V, Wray NR, Devlin B, Daly M, Neale B, Børglum AD, Crowley JJ, Scharf J, Mathews CA, Faraone SV, Franke B, Mattheisen M, Smoller JW, Paschou P. Biol Psychiatry. 2021 Jan 8:S0006-3223(21)00038-X. doi: 10.1016/j.biopsych.2020.12.028.