GORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.

Motivation: Our aim was to create a general-purpose relational data format and analysis tools to provide an efficient and coherent framework for working with large volumes of DNA sequence data.

Results: For this purpose we developed the GORpipe software system. It is based on a genomic ordered architecture and uses a declarative query language that combines features from SQL and shell pipe syntax in a novel manner.

Sequence variants from whole genome sequencing a large group of Icelanders.

We have accumulated considerable data on the genetic makeup of the Icelandic population by sequencing the whole genomes of 2,636 Icelanders to depth of at least 10X and by chip genotyping 101,584 more. The sequencing was done with Illumina technology. The median sequencing depth was 20X and 909 individuals were sequenced to a depth of at least 30X.

Large-scale whole-genome sequencing of the Icelandic population.

Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels).

Rate of de novo mutations and the importance of father's age to disease risk.

Mutations generate sequence diversity and provide a substrate for selection. The rate of de novo mutations is therefore of major importance to evolution. Here we conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage.

Identification of low-frequency variants associated with gout and serum uric acid levels.

We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 chip-genotyped Icelanders and their relatives, for effective sample sizes of 968 individuals with gout and 15,506 individuals for whom serum uric acid measurements were available. We identified a low-frequency missense variant (c.

Long-term effects of integrated rehabilitation in patients with stroke: a nonrandomized comparative feasibility study.

Background And Purpose: Integrated rehabilitation (IR) in patients with stroke with respect to death rate and feasibility, initiated as a reduced death rate, was observed in patients with angina pectoris receiving IR.

Design: A case-control study included 73 consecutive patients with ischemic stroke. Death rates were compared with those of the general Danish population matched for age, gender, and observation period, as well as data from the community-based Copenhagen Stroke Study.

A simple and objective marker for stress.

Objective: To examine the association between pressure pain sensitivity (PPS) at sternum and various well established physiological stress measures among opera singers during a performance as a measure for transitional stress, and resting values in out-clinic patients as a measure for persistent stress.

Methods: Changes in PPS on the index finger and sternum, middle blood pressure (MAP), heart rate (HR), pressure-rate-product (PRP) and salivary cortisol (SCO) were recorded in 26 opera solo singers during a performance. Resting PPS, HR, MAP, PRP and presence of a noxious withdrawal reflex (NWR) were recorded in 181 out-clinic patients.