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13 papers found.
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Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder

Background Obsessive-compulsive disorder (OCD), a severe mental disease manifested in time-consuming repetition of behaviors, affects 1 to 3% of the human population. While highly heritable, complex genetics has hampered attempts to elucidate OCD etiology. Dogs suffer from naturally occurring compulsive disorders that closely model human OCD, manifested as an excessive repetition...

Performance of Microarray and Liquid Based Capture Methods for Target Enrichment for Massively Parallel Sequencing and SNP Discovery

Targeted sequencing is a cost-efficient way to obtain answers to biological questions in many projects, but the choice of the enrichment method to use can be difficult. In this study we compared two hybridization methods for target enrichment for massively parallel sequencing and single nucleotide polymorphism (SNP) discovery, namely Nimblegen sequence capture arrays and the...

Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development

Arachnomelia is a monogenic recessive defect of skeletal development in cattle. The causative mutation was previously mapped to a ∼7 Mb interval on chromosome 5. Here we show that array-based sequence capture and massively parallel sequencing technology, combined with the typical family structure in livestock populations, facilitates the identification of the causative mutation...

Copy number expansion of the STX17 duplication in melanoma tissue from Grey horses

BackgroundGreying with age in horses is an autosomal dominant trait, associated with loss of hair pigmentation, melanoma and vitiligo-like depigmentation. We recently identified a 4.6 kb duplication in STX17 to be associated with the phenotype. The aims of this study were to investigate if the duplication in Grey horses shows copy number variation and to exclude that any other...

Canine Hereditary Ataxia in Old English Sheepdogs and Gordon Setters Is Associated with a Defect in the Autophagy Gene Encoding RAB24

Andrew Singleton Noriko Tonomura Snaevar Sigurdsson Ruqi Tang Keith Linder Sampath Arepalli Dena Hernandez Kerstin Lindblad-Toh Joyce van de Leemput Alison Motsinger-Reif Dennis P. O'Brien Jerold Bell

Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B

Karlsson et al. Genome Biology Elinor K Karlsson 7 8 Snaevar Sigurdsson 6 8 Emma Ivansson 6 8 Rachael Thomas 13 Ingegerd Elvers 6 8 Jason Wright 8 Cedric Howald 8 Noriko Tonomura 8 12 Michele

Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses

Rebecca R. Bellone George Forsyth Tosso Leeb Sheila Archer Snaevar Sigurdsson Freyja Imsland Evan Mauceli Martina Engensteiner Ernest Bailey Lynne Sandmeyer Bruce Grahn Kerstin Lindblad-Toh Claire

Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping

Sigurdsson Tove Fall Eija H. Seppa la Mark S. T. Hansen Cindy T. Lawley Elinor K. Karlsson The LUPA Consortium Danika Bannasch Carles Vila` Hannes Lohi Francis Galibert Merete Fredholm Jens Ha ggstro m A ke

Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA

Whole genome amplification (WGA) procedures such as primer extension preamplification (PEP) or multiple displacement amplification (MDA) have the potential to provide an unlimited source of DNA for large‐scale genetic studies. We have performed a quantitative evaluation of PEP and MDA for genotyping single nucleotide polymorphisms (SNPs) using multiplex, four‐color fluorescent...

Multiplex SNP genotyping in pooled DNA samples by a four‐colour microarray system

We selected 125 candidate single nucleotide polymorphisms (SNPs) in genes belonging to the human type 1 interferon (IFN) gene family and the genes coding for proteins in the main type 1 IFN signalling pathway by screening databases and by in silico comparison of DNA sequences. Using quantitative analysis of pooled DNA samples by solid‐phase mini‐sequencing, we found that only 20...

Mutation discovery in mice by whole exome sequencing

Sigurdsson Evan Mauceli Federica Di Palma Kerstin Lindblad-Toh Michael L Cunningham Timothy C Cox Monica J Justice Mona S Spector Scott W Lowe Thomas Albert Leah Rae Donahue 0 Jeffrey Jeddeloh Jay Shendure

A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

Systemic lupus erythematosus (SLE) is the prototype autoimmune disease where genes regulated by type I interferon (IFN) are over-expressed and contribute to the disease pathogenesis. Because signal transducer and activator of transcription 4 (STAT4) plays a key role in the type I IFN receptor signaling, we performed a candidate gene study of a comprehensive set of single...

Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

Snaevar Sigurdsson Harald H.H. Go ring Gudlaug Kristjansdottir Lili Milani Gunnel Nordmark Johanna K. Sandling Maija-Leena Eloranta Di Feng Niquiche Sangster-Guity Iva Gunnarsson Elisabet Svenungsson