Sigve Nakken

• Møller, Pål; Seppälä, Toni T.; Ahadova, Aysel; Crosbie, Emma J.; Holinski-Feder, Elke & Scott, Rodney [Show all 49 contributors for this article] (2023). Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement. Hereditary Cancer in Clinical Practice. ISSN 1731-2302. 21(1), p. 1–12. doi: 10.1186/s13053-023-00263-3. Full text in Research Archive
• Namløs, Heidi Maria; Khelik, Ksenia; Nakken, Sigve; Vodak, Daniel; Hovig, Eivind & Myklebost, Ola [Show all 8 contributors for this article] (2023). Chromosomal instability and a deregulated cell cycle are intrinsic features of high-risk gastrointestinal stromal tumours with a metastatic potential. Molecular Oncology. ISSN 1574-7891. 17(11), p. 2432–2450. doi: 10.1002/1878-0261.13514. Full text in Research Archive
• Nakken, Sigve; Gundersen, Sveinung; Bernal, Fabian Leonardo Martinez; Polychronopoulos, Dimitris; Hovig, Eivind & Wesche, Jørgen (2023). Comprehensive interrogation of gene lists from genome-scale cancer screens with oncoEnrichR. International Journal of Cancer. ISSN 0020-7136. 153(10), p. 1819–1828. doi: 10.1002/ijc.34666. Full text in Research Archive
• Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, Toni T.; Sampson, Julian R.; Sunde, Lone & Bernstein, Inge [Show all 116 contributors for this article] (2023). Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. EClinicalMedicine. ISSN 2589-5370. 58. doi: 10.1016/j.eclinm.2023.101909.
• Hanes, Robert; Ayuda-Duran, Maria del Pilar; Rønneberg, Leiv; Nakken, Sigve; Hovig, Eivind & Zucknick, Manuela [Show all 7 contributors for this article] (2022). screenwerk: a modular tool for the design and analysis of drug combination screens. Bioinformatics. ISSN 1367-4803. 39(1). doi: 10.1093/bioinformatics/btac840. Full text in Research Archive
• Giliberto, Mariaserena; Miranda Santana, Leonardo; Holien, Toril; Misund, Kristine; Nakken, Sigve & Vodak, Daniel [Show all 12 contributors for this article] (2022). Mutational analysis and protein profiling predict drug sensitivity in multiple myeloma cell lines. Frontiers in Oncology. ISSN 2234-943X. 12:1040730, p. 1–14. doi: 10.3389/fonc.2022.1040730. Full text in Research Archive
• Zavaleta, Elizabeth; Solis, Nelly; Palacios, Maria Isabel; Zevallos-Escobar, Liz Elva; Corales, Edison Vasquez & Bazo-Alvarez, Juan Carlos [Show all 17 contributors for this article] (2022). Genetic Characterization in High-Risk Individuals from a Low-Resource City of Peru. Cancers. ISSN 2072-6694. 14(22), p. 1–13. doi: 10.3390/cancers14225603. Full text in Research Archive
• Ng, Matthew; Charsou, Chara; Da Silva Lapao, Ana Sofia; Singh, Sakshi; Trachsel Moncho, Laura Cristina & Schultz, Sebastian Wolfgang [Show all 9 contributors for this article] (2022). The cholesterol transport protein GRAMD1C regulates autophagy initiation and mitochondrial bioenergetics. Nature Communications. ISSN 2041-1723. 13(1). doi: 10.1038/s41467-022-33933-2. Full text in Research Archive
• Møller, Pål; Seppälä, Toni; Dowty, James G.; Haupt, Saskia; Dominguez-Valentin, Mev & Sunde, Lone [Show all 157 contributors for this article] (2022). Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hereditary Cancer in Clinical Practice. ISSN 1731-2302. 20(1). doi: 10.1186/s13053-022-00241-1.
• Fiorito, Elisa; Szybowska, Patrycja Maria; Haugsten, Ellen Margrethe; Kostas, Michal Janusz; Øy, Geir Frode & Wiedlocha, Antoni [Show all 12 contributors for this article] (2022). Strategies to inhibit FGFR4 V550L-driven rhabdomyosarcoma. British Journal of Cancer. ISSN 0007-0920. 127, p. 1939–1953. doi: 10.1038/s41416-022-01973-6. Full text in Research Archive
• Venizelos, Andreas; Engebrethsen, Christina; Deng, Wei; Geisler, Jürgen; Geisler, Stephanie & Iversen, Gjertrud Titlestad [Show all 18 contributors for this article] (2022). Clonal evolution in primary breast cancers under sequential epirubicin and docetaxel monotherapy. Genome Medicine. ISSN 1756-994X. 14, p. 1–18. doi: 10.1186/s13073-022-01090-2. Full text in Research Archive
• Dominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan & Jenkins, Mark A. [Show all 88 contributors for this article] (2021). No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2: A prospective lynch syndrome database study. Journal of Clinical Medicine. ISSN 2077-0383. 10(13), p. 1–12. doi: 10.3390/jcm10132856. Full text in Research Archive
• Nakken, Sigve; Saveliev, Vladislav; Hofmann, Oliver; Møller, Pål; Myklebost, Ola & Hovig, Eivind (2021). Cancer Predisposition Sequencing Reporter (CPSR): A flexible variant report engine for high-throughput germline screening in cancer. International Journal of Cancer. ISSN 0020-7136. p. 1–6. doi: 10.1002/ijc.33749. Full text in Research Archive Show summary

  The value of high-throughput germline genetic testing is increasingly recognized inclinical cancer care. Disease-associated germline variants in cancer patients areimportant for risk management and surveillance, surgical decisions and can also havemajor implications for treatment strategies since many are in DNA repair genes. Withthe increasing availability of high-throughput DNA sequencing in cancer clinics andresearch, there is thus a need to provide clinically oriented sequencing reports forgermline variants and their potential therapeutic relevance on a per-patient basis. Tomeet this need, we have developed the Cancer Predisposition Sequencing Reporter(CPSR), an open-source computational workflow that generates a structured reportof germline variants identified in known cancer predisposition genes, highlightingmarkers of therapeutic, prognostic and diagnostic relevance. A fully automated vari-ant classification procedure based on more than 30 refined American College ofMedical Genetics and Genomics (ACMG) criteria represents an integral part of theworkflow. Importantly, the set of cancer predisposition genes profiled in the reportcan be flexibly chosen from more than 40 virtual gene panels established by scientificexperts, enabling customization of the report for different screening purposes andclinical contexts. The report can be configured to also list actionable secondary vari-ant findings, as recommended by ACMG. CPSR demonstrates comparable sensitivityand specificity for the detection of pathogenic variants when compared to otheralgorithms in the field. Technically, the tool is implemented in Python/R, and is freelyavailable through Docker technology. Source code, documentation, example reportsand installation instructions are accessible via the project GitHub page: https://github.com/sigven/cpsr.

• Nakken, Sigve; Lilleby, Wolfgang; Switlyk, Marta Daniela; Knudsen, Karen E.; Lilleby, Oscar & Zhao, Sen [Show all 10 contributors for this article] (2021). The quandary of dna-based treatment assessment in de novo metastatic prostate cancer in the era of precision oncology. Journal of Personalized Medicine. 11(5), p. 1–18. doi: 10.3390/jpm11050330. Full text in Research Archive
• Aamdal, Elin; Inderberg, Else Marit ; Ellingsen, Espen Basmo; Rasch, Wenche; Brunsvig, Paal Fr. & Aamdal, Steinar [Show all 13 contributors for this article] (2021). Combining a universal telomerase based cancer vaccine with ipilimumab in patients with metastatic melanoma - Five-year follow up of a phase I/IIa trial. Frontiers in Immunology. ISSN 1664-3224. 12, p. 1–10. doi: 10.3389/fimmu.2021.663865. Full text in Research Archive
• Wise, Jillian; Nakken, Sigve; Steen, Chloe Beate; Vodak, Daniel; Trøen, Gunhild & Johannessen, Bjarne [Show all 24 contributors for this article] (2020). Mutational dynamics and immune evasion in diffuse large B-cell lymphoma explored in a relapse-enriched patient series. Blood Advances. ISSN 2473-9529. 4(9), p. 1859–1866. doi: 10.1182/bloodadvances.2019001325. Show summary

  • Diagnostic and relapse diffuse large B-cell lymphoma (DLBCL) biopsies reveal increased mutational burden/loss of heterozygosity in HLA-A. • Serially sampled tumor biopsies provide insight into therapeutic targets and evolutionary divergence in relapsed/refractory DLBCL.

• Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; MacRae, Finlay & Winship, Ingrid [Show all 87 contributors for this article] (2020). Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Genetics in Medicine. ISSN 1098-3600. p. 1–8. doi: 10.1038/s41436-020-01029-1. Full text in Research Archive
• Lavelle, Timothy J; Alver, Tine Norman; Heintz, Karen Marie; Wernhoff, Patrik; Nygaard, Vegard & Nakken, Sigve [Show all 10 contributors for this article] (2020). Dysregulation of MITF Leads to Transformation in MC1R-Defective Melanocytes. Cancers. ISSN 2072-6694. 12(7), p. 1–20. doi: 10.3390/cancers12071719. Full text in Research Archive
• Ree, Anne Hansen; Nygaard, Vigdis; Pedersen, Kjetil Boye; Heinrich, Daniel; Dueland, Svein & Bergheim, Inger Riise [Show all 25 contributors for this article] (2020). Molecularly matched therapy in the context of sensitivity, resistance, and safety; patient outcomes in end-stage cancer?the MetAction study. Acta Oncologica. ISSN 0284-186X. p. 1–10. doi: 10.1080/0284186X.2020.1742377. Full text in Research Archive
• Lund-Andersen, Christin; Nakken, Sigve; Nygård, Ståle; Fromm, Bastian; Aasheim, Lars Birger & Davidson, Ben [Show all 13 contributors for this article] (2019). Integrative genomic analysis of peritoneal malignant mesothelioma: Understanding a case with extraordinary chemotherapy response. Cold Spring Harbor Molecular Case Studies. ISSN 2373-2873. 5:a003566(2), p. 1–15. doi: 10.1101/mcs.a003566. Full text in Research Archive
• Dominguez-Valentin, Mev; Nakken, Sigve; Tubeuf, Hélène; Vodák, Daniel; Ekstrøm, Per Olaf & Nissen, Anke M. [Show all 15 contributors for this article] (2019). Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing. Scientific Reports. ISSN 2045-2322. 9:18555, p. 1–9. doi: 10.1038/s41598-019-54517-z. Full text in Research Archive
• Dominguez-Valentin, Mev; Sampson, Julian R.; Seppälä, Toni T.; ten Broeke, Sanne W.; Plazzer, John-Paul & Nakken, Sigve [Show all 87 contributors for this article] (2019). Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genetics in Medicine. ISSN 1098-3600. 22, p. 15–25. doi: 10.1038/s41436-019-0596-9. Full text in Research Archive
• Dominguez-Valentin, Mev; Seppälä, Toni T.; Sampson, Julian R.; MacRae, Finlay; Winship, Ingrid & Evans, D. Gareth [Show all 43 contributors for this article] (2019). Survival by colon cancer stage and screening interval in Lynch syndrome: A prospective Lynch syndrome database report. Hereditary Cancer in Clinical Practice. ISSN 1731-2302. 17:28, p. 1–6. doi: 10.1186/s13053-019-0127-3.
• Seppälä, Toni T.; Ahadova, Aysel; Dominguez-Valentin, Mev; Macrae, Finlay; Evans, D. Gareth & Therkildsen, Christina [Show all 57 contributors for this article] (2019). Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; A prospective Lynch syndrome database report. Hereditary Cancer in Clinical Practice. ISSN 1731-2302. 17:8, p. 1–8. doi: 10.1186/s13053-019-0106-8.
• Møller, Pål; Seppälä, Toni T.; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo & Evans, D. Gareth [Show all 38 contributors for this article] (2018). Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut. ISSN 0017-5749. 67(7), p. 1306–1316. doi: 10.1136/gutjnl-2017-314057. Full text in Research Archive
• Dominguez Valentin, Mev; Evans, D. Gareth R.; Nakken, Sigve; Tubeuf, Hélène; Vodak, Daniel & Ekstrøm, Per Olaf [Show all 12 contributors for this article] (2018). Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds. Hereditary Cancer in Clinical Practice. ISSN 1731-2302. 16:4, p. 1–14. doi: 10.1186/s13053-018-0086-0. Full text in Research Archive
• Dominguez Valentin, Mev; Nakken, Sigve; Tubeuf, Hélène; Vodak, Daniel; Ekstrøm, Per Olaf & Nissen, Anke M. [Show all 11 contributors for this article] (2018). Identification of genetic variants for clinical management of familial colorectal tumors. BMC Medical Genetics. ISSN 1471-2350. 19(1). doi: 10.1186/s12881-018-0533-9. Full text in Research Archive
• Vodak, Daniel; Lorenz, Susanne; Nakken, Sigve; Aasheim, Lars Birger; Holte, Harald & Bai, Baoyan [Show all 9 contributors for this article] (2018). Sample-Index Misassignment Impacts Tumour Exome Sequencing. Scientific Reports. ISSN 2045-2322. 8:5307, p. 1–6. doi: 10.1038/s41598-018-23563-4. Full text in Research Archive
• Birkeland, Einar Elvbakken; Zhang, Shan; Poduval, Deepak; Geisler, Jürgen; Nakken, Sigve & Vodak, Daniel [Show all 11 contributors for this article] (2018). Patterns of genomic evolution in advanced melanoma. Nature Communications. ISSN 2041-1723. 9:2665, p. 1–12. doi: 10.1038/s41467-018-05063-1. Full text in Research Archive
• Seppälä, Toni; Pylvänäinen, Kirsi; Evans, Dafydd Gareth; Järvinen, Heikki; Renkonen-Sinisalo, Laura & Bernstein, Inge [Show all 38 contributors for this article] (2017). Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: A Prospective Lynch Syndrome Database report. Hereditary Cancer in Clinical Practice. ISSN 1731-2302. 15:18, p. 1–10. doi: 10.1186/s13053-017-0078-5. Full text in Research Archive
• Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola & Evans, D. Gareth [Show all 37 contributors for this article] (2017). Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: A report from the prospective Lynch syndrome database. Gut. ISSN 0017-5749. 66(9), p. 1657–1664. doi: 10.1136/gutjnl-2016-311403. Full text in Research Archive
• Dominguez Valentin, Mev; Nakken, Sigve; Tubeuf, Hélène; Vodak, Daniel; Ekstrøm, Per Olaf & Nissen, Anke M. [Show all 11 contributors for this article] (2017). Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families. Familial Cancer. ISSN 1389-9600. 17(1), p. 141–153. doi: 10.1007/s10689-017-0011-0.
• Helland, Åslaug; Brustugun, Odd Terje; Nakken, Sigve; Halvorsen, Ann Rita; Dønnem, Tom & Bremnes, Roy M. [Show all 15 contributors for this article] (2017). High number of kinome-mutations in non-small cell lung cancer is associated with reduced immune response and poor relapse-free survival. International Journal of Cancer. ISSN 0020-7136. 141(1), p. 184–190. doi: 10.1002/ijc.30726. Full text in Research Archive
• Ree, Anne Hansen; Russnes, Hege Elisabeth Giercksky; Heinrich, Daniel; Dueland, Svein; Pedersen, Kjetil Boye & Nygaard, Vigdis [Show all 33 contributors for this article] (2017). Implementing precision cancer medicine in the public health services of Norway: the diagnostic infrastructure and a cost estimate. ESMO Open. ISSN 2059-7029. 2(2), p. 1–10. doi: 10.1136/esmoopen-2017-000158. Full text in Research Archive
• Simovski, Boris; Vodak, Daniel; Gundersen, Sveinung; Domanska, Diana Ewa; Azab, Abdulrahman & Holden, Lars [Show all 25 contributors for this article] (2017). GSuite HyperBrowser: integrative analysis of dataset collections across the genome and epigenome. GigaScience. ISSN 2047-217X. 6(7), p. 1–12. doi: 10.1093/gigascience/gix032. Full text in Research Archive Show summary

  Background: Recent large-scale undertakings such as ENCODE and Roadmap Epigenomics have generated experimental data mapped to the human reference genome (as genomic tracks) representing a variety of functional elements across a large number of cell types. Despite the high potential value of these publicly available data for a broad variety of investigations, little attention has been given to the analytical methodology necessary for their widespread utilisation. Findings: We here present a first principled treatment of the analysis of collections of genomic tracks. We have developed novel computational and statistical methodology to permit comparative and confirmatory analyses across multiple and disparate data sources. We delineate a set of generic questions that are useful across a broad range of investigations and discuss the implications of choosing different statistical measures and null models. Examples include contrasting analyses across different tissues or diseases. The methodology has been implemented in a comprehensive open-source software system, the GSuite HyperBrowser. To make the functionality accessible to biologists, and to facilitate reproducible analysis, we have also developed a web-based interface providing an expertly guided and customizable way of utilizing the methodology. With this system, many novel biological questions can flexibly be posed and rapidly answered. Conclusions: Through a combination of streamlined data acquisition, interoperable representation of dataset collections and customizable statistical analysis with guided setup and interpretation, the GSuite HyperBrowser represents a first comprehensive solution for integrative analysis of track collections across the genome and epigenome. The software is available at: https://hyperbrowser.uio.no

• Landfors, Miriam; Nakken, Sigve; Fusser, Markus; Dahl, John Arne; Klungland, Arne & Fedorcsák, Péter (2016). Sequencing of FTO and ALKBH5 in men undergoing infertility work-up identifies an infertility-associated variant and two missense mutations. Fertility and Sterility. ISSN 0015-0282. 105(5), p. 1170–1179e5. doi: 10.1016/j.fertnstert.2016.01.002.
• Wise, Jillian Frances; Nakken, Sigve; Vodak, Daniel; Trøen, Gunhild; Lingjærde, Ole Christian & Meza-Zepeda, Leonardo A [Show all 12 contributors for this article] (2015). Discovery of recurrent mutations associated with chemo-immunotherapy relapse in diffuse large B-cell lymphoma. Blood. ISSN 0006-4971. 126(23), p. 110–110. doi: 10.1182/blood.v126.23.110.110.
• Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola & Evans, D Gareth [Show all 35 contributors for this article] (2015). Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut. ISSN 0017-5749. 66(3), p. 464–472. doi: 10.1136/gutjnl-2015-309675.
• Alioto, Tyler S.; Buchhalter, Ivo; Derdak, Sophia; Hutter, Barbara; Eldridge, Matthew D. & Hovig, Johannes Eivind [Show all 83 contributors for this article] (2015). A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nature Communications. ISSN 2041-1723. 6:10001. doi: 10.1038/ncomms10001.
• Ekstrøm, Per Olaf; Nakken, Sigve; Johansen, Morten & Hovig, Johannes Eivind (2015). Automated amplicon design suitable for analysis of DNA variants by melting techniques. BMC Research Notes. ISSN 1756-0500. 8(1). doi: 10.1186/s13104-015-1624-8.
• Rustad, Even Holth; Dai, Hong Yan; Hov, Håkon; Coward, Eivind; Beisvag, Vidar & Myklebost, Ola [Show all 16 contributors for this article] (2015). BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis. Blood Cancer Journal. ISSN 2044-5385. 5:e299(3), p. 1–7. doi: 10.1038/bcj.2015.24. Full text in Research Archive
• Kerty, Emilia; Heuser, Kjell; Indahl, Ulf Geir; Berg, Paul Ragnar; Nakken, Sigve & Lien, Sigbjørn [Show all 9 contributors for this article] (2013). Is the brain water channel aquaporin-4 a pathogenetic factor in idiopathic intracranial hypertension? Results from a combined clinical and genetic study in a Norwegian cohort. Acta Ophthalmologica. ISSN 1755-375X. 91(1), p. 88–91. doi: 10.1111/j.1755-3768.2011.02231.x.
• Selmer, Kaja Kristine; Gilfillan, Gregor Duncan; Strømme, Petter; Lyle, Robert; Hughes, Timothy & Hjorthaug, Hanne Sagsveen [Show all 13 contributors for this article] (2012). A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. European Journal of Human Genetics. ISSN 1018-4813. 20(1), p. 58–63. doi: 10.1038/ejhg.2011.126.
• Nakken, Sigve; Johansen, Morten; Fillebeen, Julien; Berge, Ole Petter; Kirkerød, Harald & Jenssen, Tor-Kristian [Show all 7 contributors for this article] (2012). CellLineMiner: a knowledge portal for human cell lines. Bioinformation. ISSN 0973-8894. 8(22), p. 1119–1122. doi: 10.6026/97320630081119.
• Nakken, Sigve; Rødland, Einar Andreas & Hovig, Eivind (2010). Impact of DNA Physical Properties on Local Sequence Bias of Human Mutation. Human Mutation. ISSN 1059-7794. 31(12), p. 1316–1325. doi: 10.1002/humu.21371.
• Heuser, Kjell; Nagelhus, Erlend Arnulf; Taubøll, Erik; Indahl, Ulf Geir; Berg, Paul Ragnar & Lien, Sigbjørn [Show all 9 contributors for this article] (2010). Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy. Epilepsy Research. ISSN 0920-1211. 88(1), p. 55–64. doi: 10.1016/j.eplepsyres.2009.09.023.
• Falster, DS; Nakken, S; Bergem-Ohr, M; Rødland, Einar Andreas & Breivik, J (2010). Unstable DNA Repair Genes Shaped by Their Own Sequence Modifying Phenotypes. Journal of Molecular Evolution. ISSN 0022-2844. 70(3), p. 266–274. doi: 10.1007/s00239-010-9328-0.
• Nakken, Karl Esten; Labori, Knut Jørgen; Rødningen, Olaug Kristin; Nakken, Sigve; Berge, Knut Erik & Eiklid, Kristin Louise [Show all 7 contributors for this article] (2009). ABCB4 sequence variations in young adults with cholesterol gallstone disease. Liver international (Print). ISSN 1478-3223. 29(5), p. 743–747. doi: 10.1111/j.1478-3231.2008.01914.x.
• Nakken, Sigve; Rødland, Einar Andreas; Rognes, Torbjørn & Hovig, Eivind (2009). Large-scale inference of the point mutational spectrum in human segmental duplications. BMC Genomics. ISSN 1471-2164. 10. doi: 10.1186/1471-2164-10-43. Full text in Research Archive
• Nakken, Sigve; Aussedat, Ophelie; Kristoffersen, Anja Bråthen; Holst-Jensen, Arne & Tengs, Torstein (2009). UniquePrimer - a web utility for design of specific PCR primers and probes. Annales de microbiologie. ISSN 0300-5410. 59(2), p. 391–393.
• Nakken, Sigve; Rognes, Torbjørn & Hovig, Eivind (2009). The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts. Nucleic Acids Research (NAR). ISSN 0305-1048. 37(17), p. 5749–5756. doi: 10.1093/nar/gkp590. Full text in Research Archive
• Holla, Øystein Lunde; Nakken, Sigve; Mattingsdal, Morten; Ranheim, Trine; Berge, Knut Erik & Defesche, JC [Show all 7 contributors for this article] (2009). Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses. Molecular Genetics and Metabolism. ISSN 1096-7192. 96(4), p. 245–252. doi: 10.1016/j.ymgme.2008.12.014.
• Nakken, Karl Esten; Labori, Knut Jørgen; Rødningen, Olaug Kristin; Nakken, Sigve; Berge, Knut & Eiklid, Kristin Louise [Show all 7 contributors for this article] (2008). ABCB4 sequence variations in young adults with cholesterol gallstone disease. Liver international (Print). ISSN 1478-3223.
• Nakken, Sigve; Alseth, Ingrun & Rognes, Torbjørn (2007). Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in human DNA repair genes. Neuroscience. ISSN 0306-4522. 145. doi: 10.1016/j.neuroscience.2006.09.004.

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• Dominguez-Valentin, Mev; Sampson, Julian R.; Møller, Pål; Seppälä, Toni T.; Plazzer, John-Paul & Nakken, Sigve [Show all 88 contributors for this article] (2021). Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum. International Journal of Cancer. ISSN 0020-7136. 148(2), p. 512–513. doi: 10.1002/ijc.33214.
• Dominguez-Valentin, Mev; Sampson, Julian R.; Seppälä, Toni T.; ten Broeke, Sanne W.; Plazzer, John-Paul & Nakken, Sigve [Show all 87 contributors for this article] (2020). Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (Genetics in Medicine, (2020), 22, 1, (15-25), 10.1038/s41436-019-0596-9). Genetics in Medicine. ISSN 1098-3600. 22(9). doi: 10.1038/s41436-020-0892-4.
• Bai, Baoyan; Vodák, Daniel; Nakken, Sigve; Wise, Jillian; Blaker, Yngvild Nuvin & Lingjærde, Ole Christian [Show all 18 contributors for this article] (2019). Deep profiling of genetic aberrations and clonal evolution in follicular lymphoma. Blood. ISSN 0006-4971. 134(1), p. 20–20. doi: 10.1182/blood-2019-128403.
• Nakken, Sigve; Fournous, Ghislain; Vodak, Daniel; Aasheim, Lars Birger; Myklebost, Ola & Hovig, Eivind (2018). Personal Cancer Genome Reporter: Variant interpretation report for precision oncology. Bioinformatics. ISSN 1367-4803. 34(10), p. 1778–1780. doi: 10.1093/bioinformatics/btx817. Full text in Research Archive
• Nakken, Sigve; Vodák, Daniel; Fournous, Ghislain; Thomassen, Gard O Sundby & Hovig, Johannes Eivind (2013). Big challenges in personalized cancer medicine. META. ISSN 1890-1956. p. 8–12. Show summary

  DNA sequencing technology has recently made huge leaps, making it possible to characterize all genetic changes in any cancer. Robust bioinformatics solutions for both safe data storage, as well as processing, interpretation, and sharing, are critically important before this layer of patient information could be useful to the clinic. Here, we will provide an introduction to the field of bioinformatics in personalized cancer medicine, and specifically highlight the need for computation and storage resources at a local and national level.

• Nakken, Karl Esten; Labori, Knut Jørgen; Rødningen, Olaug K.; Nakken, Sigve; Eiklid, Kristin Louise & Ræder, Morten (2007). Variability of the ABCB4 gene in young adult cholecystectomized patients.
• Nakken, Sigve & Rognes, Torbjørn (2010). Inference of molecular mechanisms from sequence patterns in human DNA variation. Unipub forlag.

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