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List of works by Sigve Nakken

A Comprehensive Assessment of Somatic Mutation Calling in Cancer Genomes

article

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.

scientific article

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions ⬇️

scientific article published on June 29, 2011

Automated amplicon design suitable for analysis of DNA variants by melting techniques

scientific article published on 11 November 2015

BRAF V600E mutation in early-stage multiple myeloma: good response to broad acting drugs and no relation to prognosis

scientific article

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

scientific article published on 9 December 2015

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

scientific article published on 28 July 2017

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 24 July 2019

CellLineMiner: a knowledge portal for human cell lines

scientific article published on 13 November 2012

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

scientific article published on 10 October 2017

Computational prediction of the effects of non-synonymous single nucleotide polymorphisms in human DNA repair genes.

scientific article published on 19 October 2006

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

scientific article published on 20 July 2020

Dysregulation of MITF Leads to Transformation in MC1R-Defective Melanocytes

scientific article published on 28 June 2020

Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses

scientific article

GSuite HyperBrowser: integrative analysis of dataset collections across the genome and epigenome

scientific article published on 27 April 2017

GSuite HyperBrowser: integrative analysis of dataset collections across the genome and epigenome

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

scientific article

High number of kinome-mutations in non-small cell lung cancer is associated with reduced immune response and poor relapse-free survival

scientific article

Identification of genetic variants for clinical management of familial colorectal tumors.

scientific article published on 20 February 2018

Impact of DNA physical properties on local sequence bias of human mutation

article

Implementing precision cancer medicine in the public health services of Norway: the diagnostic infrastructure and a cost estimate.

scientific article

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

scientific article published on 3 June 2016

Integrative genomic analysis of peritoneal malignant mesothelioma: understanding a case with extraordinary chemotherapy response

scientific article published on 01 April 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

scientific article published on 28 February 2019

Large-scale inference of the point mutational spectrum in human segmental duplications

scientific article

Molecularly matched therapy in the context of sensitivity, resistance, and safety; patient outcomes in end-stage cancer - the MetAction study

scientific article published on 25 March 2020

Mutational dynamics and immune evasion in diffuse large B-cell lymphoma explored in a relapse-enriched patient series

scientific article published on 01 May 2020

Patterns of genomic evolution in advanced melanoma.

scientific article published on 10 July 2018

Personal Cancer Genome Reporter: Variant Interpretation Report For Precision Oncology

Personal Cancer Genome Reporter: variant interpretation report for precision oncology

scientific article published on 20 December 2017

Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families.

scientific article published on 12 June 2017

Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing

scientific article published on 06 December 2019

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

scientific article published on 01 December 2020

Sample-Index Misassignment Impacts Tumor Exome Sequencing

Sample-Index Misassignment Impacts Tumour Exome Sequencing.

scientific article published on 28 March 2018

Sequencing of FTO and ALKBH5 in men undergoing infertility work-up identifies an infertility-associated variant and two missense mutations.

scientific article published on 25 January 2016

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

scientific article published on 14 October 2019

The disruptive positions in human G-quadruplex motifs are less polymorphic and more conserved than their neutral counterparts

scientific article published on 17 July 2009

Unstable DNA repair genes shaped by their own sequence modifying phenotypes.

scientific article

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