[HTML][HTML] Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

…, HM Umer, L Uusküla-Reimand, C Wadelius… - Nature, 2020 - nature.com
The discovery of drivers of cancer has traditionally focused on protein-coding genes 1 , 2 , 3
– 4 . Here we present analyses of driver point mutations and structural variants in non-…

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

…, JD Lieb, VR Iyer, RD Green, TR Gingeras, C Wadelius… - nature, 2007 - nature.com
We report the generation and analysis of functional data from multiple, diverse experiments
performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE …

Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma

…, M Motallebipour, O Wallerman, C Wadelius… - Science, 2007 - science.org
Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple
single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma…

Identification of the gene responsible for Best macular dystrophy

…, CP Austin, ML Metzker, CT Caskey, C Wadelius - Nature …, 1998 - nature.com
Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM
153700), is an autosomal dominant form of macular degeneration characterized by an …

Common VKORC1 and GGCX polymorphisms associated with warfarin dose

M Wadelius, LY Chen, K Downes, J Ghori… - The …, 2005 - nature.com
We report a novel combination of factors that explains almost 60% of variable response to
warfarin. Warfarin is a widely used anticoagulant, which acts through interference with vitamin …

[HTML][HTML] Association of warfarin dose with genes involved in its action and metabolism

M Wadelius, LY Chen, N Eriksson, S Bumpstead… - Human genetics, 2007 - Springer
We report an extensive study of variability in genes encoding proteins that are believed to be
involved in the action and biotransformation of warfarin. Warfarin is a commonly prescribed …

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

…, CJ Hammond, K Thordarson, M Zhang, C Wadelius… - Nature …, 2010 - nature.com
We conducted a genome-wide association study for primary open-angle glaucoma (POAG)
in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a …

Nucleosomes are well positioned in exons and carry characteristic histone modifications

…, S Enroth, A Rada-Iglesias, C Wadelius… - Genome …, 2009 - genome.cshlp.org
The genomes of higher organisms are packaged in nucleosomes with functional histone
modifications. Until now, genome-wide nucleosome and histone modification studies have …

Monte Carlo feature selection for supervised classification

…, A Rada-Iglesias, S Enroth, C Wadelius… - …, 2008 - academic.oup.com
Motivation: Pre-selection of informative features for supervised classification is a crucial,
albeit delicate, task. It is desirable that feature selection provides the features that contribute …

Genetic determinants of dabigatran plasma levels and their relation to bleeding

…, A Siegbahn, AC Syvanen, C Wadelius, M Wadelius… - Circulation, 2013 - Am Heart Assoc
Background— Fixed-dose unmonitored treatment with dabigatran etexilate is effective and
has a favorable safety profile in the prevention of stroke in atrial fibrillation patients compared …