Clinical Genomics Uppsala offers services to researchers with translational or clinical projects, aiming to improve diagnostics and facilitate precision medicine. We provide comprehensive end-to-end support with a range of molecular methods for genomics, transcriptomics and epigenomics. We also develop and implement new diagnostic tests in clinical routine.
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Malin Melin
Platform Co-Director: Clinical Genomics, Uppsala University
Head of Unit: Clinical Genomics Uppsala
Key publications
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities. Eisfeldt J, Ameur A, Lenner F, Ten Berk de Boer E, Ek M, Wincent J, Vaz R, Ottosson J, Jonson T, Ivarsson S, Thunström S, Topa A, Stenberg S, Rohlin A, Sandestig A, Nordling M, Palmebäck P, Burstedt M, Nordin F, Stattin E-L, Sobol M, Baliakas P, Bondeson M-L, Höijer I, Bilgrav Saether K, Lovmar L, Ehrencrona H, Melin M, Feuk L and Lindstrand A.
Genome Res. 2024 Nov 20;34(11):1774-1784. doi:10.1101/gr.279510.124.
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.
De Coster W, Hoijer I, Bruggeman I, D’Hert S, Melin M, Ameur A, Rademakers R.
Genome Res. 2024 Aug 15:gr.279265.124. doi: 10.1101/gr.279265.124.PMID: 39147583
PIK3CA is recurrently mutated in canine mammary tumors, similarly to in human mammary neoplasia.
Arendt ML, Sakthikumar S, Melin M, Elvers I, Rivera P, Larsen M, Saellström S, Lingaas F, Rönnberg H, Lindblad-Toh K.
Sci Rep. 2023 Jan 12;13(1):632. doi: 10.1038/s41598-023-27664-7. PMID: 36635367
Implementing precision medicine in a regionally organized healthcare system in Sweden.
Fioretos T, Wirta V, Cavelier L, Berglund E, Friedman M, Akhras M, Botling J, Ehrencrona H, Engstrand L, Helenius G,Fagerqvist T, Gisselsson D, Gruvberger-Saal S, Gyllensten U, Heidenblad M, Höglund K, Jacobsson B, Johansson M, Johansson Å, Johansson Soller M, Landström M, Larsson P, Levin LÅ, Lindstrand A, Lovmar L, Lyander A, Melin M, Nordgren A, Nordmark G, Mölling P, Palmqvist L, Palmqvist R, Repsilber D, Sikora P, Stenmark B, Söderkvist P, Stranneheim H, Strid T, Wheelock C, Wadelius M, Wedell A, Edsjö A, Rosenquist R.
Nat Med. 2022 Oct;28(10):1980-1982. doi: 10.1038/s41591-022-01963-4.
PMID: 36123428
Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort.
Mathioudaki A, Ljungström V, Melin M, Arendt ML, Nordin J, Karlsson Å, Murén E, Saksena P, Meadows JRS, Marinescu VD, Sjöblom T, Lindblad-Toh K.
Sci Rep. 2020 Nov 9;10(1):19304. doi:10.1038/s41598-020-74580-1. PMID:33168853.
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Körberg I, Nowinski D, Bondeson ML, Melin M, Kölby L, Stattin EL.
BMC Med Genet. 2020 May 5;21(1):90. doi: 10.1186/s12881-020-01015-z.