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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Featured
Technological readiness and implementation of genomic-driven precision medicine for complex diseases.
Franks PW, Melén E, Friedman M, Sundström J, Kockum I, Klareskog L, Almqvist C, Bergen SE, Czene K, Hägg S, Hall P, Johnell K, Malarstig A, Catrina A, Hagström H, Benson M, Gustav Smith J, Gomez MF, Orho-Melander M, Jacobsson B, Halfvarson J, Repsilber D, Oresic M, Jern C, Melin B, Ohlsson C, Fall T, Rönnblom L, Wadelius M, Nordmark G, Johansson Å, Rosenquist R, Sullivan PF.
J Intern Med. 2021 Jul 2.
In many medical areas, the standard of care already includes at least one genomic test to aid diagnosis and treatment. But most complex diseases involve many genes combined with behavioral and environmental risk factors. In this review, Swedish genomic medicine experts discuss technological readiness across major medical specialties to implement genomic tests into health care. (News from Lund University and Karolinska Institute.)
Image credit: J Intern Med/Wiley.
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.
Clinical whole genome sequencing has provided molecular diagnoses to more than 1,200 individuals with a broad range of rare diseases. The findings come from a long-term academic-clinical collaboration to establish advanced, genomics-based diagnostics in the Stockholm healthcare setting. The paper is part of a special issue of the impact of genomics on precision public health in Genome Medicine.
Image credit: E. Alibrandi/adapted from BMC/Springer Nature.
Biweekly List (Most Recent First)
Cognition in Schizophrenia.
Stefansson H, Stefansson K.
Biol Psychiatry. 2021 Jul 1;90(1):4-5.
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.
McCartney DL, Min JL, Richmond RC, Lu AT, Sobczyk MK, Davies G, Broer L, Guo X, Jeong A, Jung J, Kasela S, Katrinli S, Kuo PL, Matias-Garcia PR, Mishra PP, Nygaard M, Palviainen T, Patki A, Raffield LM, Ratliff SM, Richardson TG, Robinson O, Soerensen M, Sun D, Tsai PC, van der Zee MD, Walker RM, Wang X, Wang Y, Xia R, Xu Z, Yao J, Zhao W, Correa A, Boerwinkle E, Dugué PA, Durda P, Elliott HR, Gieger C; Genetics of DNA Methylation Consortium, de Geus EJC, Harris SE, Hemani G, Imboden M, Kähönen M, Kardia SLR, Kresovich JK, Li S, Lunetta KL, Mangino M, Mason D, McIntosh AM, Mengel-From J, Moore AZ, Murabito JM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Ollikainen M, Pankow JS, Pedersen NL, Peters A, Polidoro S, Porteous DJ, Raitakari O, Rich SS, Sandler DP, Sillanpää E, Smith AK, Southey MC, Strauch K, Tiwari H, Tanaka T, Tillin T, Uitterlinden AG, Van Den Berg DJ, van Dongen J, Wilson JG, Wright J, Yet I, Arnett D, Bandinelli S, Bell JT, Binder AM, Boomsma DI, Chen W, Christensen K, Conneely KN, Elliott P, Ferrucci L, Fornage M, Hägg S, Hayward C, Irvin M, Kaprio J, Lawlor DA, Lehtimäki T, Lohoff FW, Milani L, Milne RL, Probst-Hensch N, Reiner AP, Ritz B, Rotter JI, Smith JA, Taylor JA, van Meurs JBJ, Vineis P, Waldenberger M, Deary IJ, Relton CL, Horvath S, Marioni RE.
Genome Biol. 2021 Jun 29;22(1):194.
Genome Wide Association Study Identifies Risk Loci For Cluster Headache.
O'Connor E, Fourier C, Ran C, Sivakumar P, Liesecke F, Southgate L, Harder AVE, Vijfhuizen LS, Yip J, Giffin N, Silver N, Ahmed F, Hostettler IC, Davies B, Cader MZ, Simpson BS, Sullivan R, Efthymiou S, Adebimpe J, Quinn O, Campbell C, Cavalleri GL, Vikelis M, Kelderman T, Paemeleire K, Kilbride E, Grangeon L, Lagrata S, Danno D, Trembath R, Wood NW, Kockum I, Winsvold BS, Steinberg A, Sjöstrand C, Waldenlind E, Vandrovcova J, Houlden H, Matharu M, Belin AC.
Ann Neurol. 2021 Jun 29.
Genetic susceptibility loci in genome-wide association study of cluster headache.
Harder AVE, Winsvold BS, Noordam R, Vijfhuizen LS, Børte S, Kogelman LJA, de Boer I, Tronvik E, Rosendaal FR, Willems van Dijk K, O'Connor E, Fourier C, Thomas LF, Kristoffersen ES; Cluster Headache Genetics Working Group, Fronczek R, Pozo-Rosich P, Jensen RH, Ferrari MD, Hansen TF, Zwart JA, Terwindt GM, van den Maagdenberg AMJM.
Ann Neurol. 2021 Jun 28. Online ahead of print.
Low Birth Weight as an Early Life Risk Factor for Adult Stroke Among Men.
Lilja L, Bygdell M, Martikainen J, Rosengren A, Ohlsson C, Kindblom JM.
J Pediatr. 2021 Jun 26:S0022-3476(21)00632-6.
Genetic Association Between Schizophrenia and Cortical Brain Surface Area and Thickness.
Cheng W, Frei O, van der Meer D, Wang Y, O'Connell KS, Chu Y, Bahrami S, Shadrin AA, Alnæs D, Hindley GFL, Lin A, Karadag N, Fan CC, Westlye LT, Kaufmann T, Molden E, Dale AM, Djurovic S, Smeland OB, Andreassen OA.
JAMA Psychiatry. 2021 Jun 23:e211435.
Genetic, Clinical, and Sociodemographic Factors Associated With Stimulant Treatment Outcomes in ADHD.
Brikell I, Wimberley T, Albiñana C, Pedersen EM, Vilhjálmsson BJ, Agerbo E, Demontis D, Børglum AD, Schork AJ, LaBianca S, Werge T, Mors O, Hougaard DM, Thapar A, Mortensen PB, Dalsgaard S.
Am J Psychiatry. 2021 Jun 22:appiajp202020121686.
Predicting the probability of death using proteomics.
Eiriksdottir T, Ardal S, Jonsson BA, Lund SH, Ivarsdottir EV, Norland K, Ferkingstad E, Stefansson H, Jonsdottir I, Holm H, Rafnar T, Saemundsdottir J, Norddahl GL, Thorgeirsson G, Gudbjartsson DF, Sulem P, Thorsteinsdottir U, Stefansson K, Ulfarsson MO.
Commun Biol. 2021 Jun 18;4(1):758.
Insulin resistance genetic risk score and burden of coronary artery disease in patients referred for coronary angiography.
Skals R, Krogager ML, Appel EVR, Schnurr TM, Have CT, Gislason G, Poulsen HE, Køber L, Engstrøm T, Stender S, Hansen T, Grarup N, Lee CJ, Andersson C, Torp-Pedersen C, Weeke PE.
PLoS One. 2021 Jun 18;16(6):e0252855.
The RNA Atlas expands the catalog of human non-coding RNAs.
Lorenzi L, Chiu HS, Avila Cobos F, Gross S, Volders PJ, Cannoodt R, Nuytens J, Vanderheyden K, Anckaert J, Lefever S, Tay AP, de Bony EJ, Trypsteen W, Gysens F, Vromman M, Goovaerts T, Hansen TB, Kuersten S, Nijs N, Taghon T, Vermaelen K, Bracke KR, Saeys Y, De Meyer T, Deshpande NP, Anande G, Chen TW, Wilkins MR, Unnikrishnan A, De Preter K, Kjems J, Koster J, Schroth GP, Vandesompele J, Sumazin P, Mestdagh P.
Nat Biotechnol. 2021 Jun 17.
Resource profile and user guide of the Polygenic Index Repository.
Becker J, Burik CAP, Goldman G, Wang N, Jayashankar H, Bennett M, Belsky DW, Karlsson Linnér R, Ahlskog R, Kleinman A, Hinds DA; 23andMe Research Group, Caspi A, Corcoran DL, Moffitt TE, Poulton R, Sugden K, Williams BS, Harris KM, Steptoe A, Ajnakina O, Milani L, Esko T, Iacono WG, McGue M, Magnusson PKE, Mallard TT, Harden KP, Tucker-Drob EM, Herd P, Freese J, Young A, Beauchamp JP, Koellinger PD, Oskarsson S, Johannesson M, Visscher PM, Meyer MN, Laibson D, Cesarini D, Benjamin DJ, Turley P, Okbay A.
Nat Hum Behav. 2021 Jun 17.
Plasma Proteomics of Renal Function: A Trans-ethnic Meta-analysis and Mendelian Randomization Study.
Matías-García P, Wilson R, Guo Q, Zaghlool S, Eales J, Xu X, Charchar F, Dormer J, Maalmi H, Schlosser P, Elhadad M, Nano J, Sharma S, Peters A, Fornoni A, Mook-Kanamori D, Winkelmann J, Danesh J, Di Angelantonio E, Ouwehand W, Watkins N, Roberts D, Petrera A, Graumann J, Koenig W, Hveem K, Jonasson C, Köttgen A, Butterworth A, Prunotto M, Hauck S, Herder C, Suhre K, Gieger C, Tomaszewski M, Teumer A, Waldenberger M.
J Am Soc Nephrol. 2021 Jun 16:ASN.2020071070.
Genetically Predicted Adiposity, Diabetes, and Lifestyle Factors in Relation to Diverticular Disease.
Yuan S, Larsson SC.
Clin Gastroenterol Hepatol. 2021 Jun 15:S1542-3565(21)00641-8.
Variants in BANK1 are associated with lupus nephritis of European ancestry.
Bolin K, Imgenberg-Kreuz J, Leonard D, Sandling JK, Alexsson A, Pucholt P, Haarhaus ML, Almlöf JC, Nititham J, Jönsen A, Sjöwall C, Bengtsson AA, Rantapää-Dahlqvist S, Svenungsson E, Gunnarsson I, Syvänen AC, Lerang K, Troldborg A, Voss A, Molberg Ø, Jacobsen S, Criswell L, Rönnblom L, Nordmark G.
Genes Immun. 2021 Jun 14.
Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24.
Karunamuni RA, Huynh-Le MP, Fan CC, Thompson W, Lui A, Martinez ME, Rose BS, Mahal B, Eeles RA, Kote-Jarai Z, Muir K, Lophatananon A; UKGPCS Collaborators, Tangen CM, Goodman PJ, Thompson IM Jr, Blot WJ, Zheng W, Kibel AS, Drake BF, Cussenot O, Cancel-Tassin G, Menegaux F, Truong T, Park JY, Lin HY, Taylor JA, Bensen JT, Mohler JL, Fontham ETH, Multigner L, Blanchet P, Brureau L, Romana M, Leach RJ, John EM, Fowke JH, Bush WS, Aldrich MC, Crawford DC, Cullen J, Petrovics G, Parent MÉ, Hu JJ, Sanderson M; PRACTICAL Consortium, Mills IG, Andreassen OA, Dale AM, Seibert TM.
Prostate Cancer Prostatic Dis. 2021 Jun 14.
Similar Genetic Architecture of Alzheimer's Disease and Differential APOE Effect Between Sexes.
Wang H, Lo MT, Rosenthal SB, Makowski C, Andreassen OA, Salem RM, McEvoy LK, Fiecas M, Chen CH.
Front Aging Neurosci. 2021 May 28;13:674318.