Karolinska Institutet

About: Karolinska Institutet is a education organization based out in Stockholm, Sweden. It is known for research contribution in the topics: Population & Cancer. The organization has 46212 authors who have published 121142 publications receiving 6008130 citations.

Analysis of protein-coding genetic variation in 60,706 humans

Abstract: Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding region) sequence data for 60,706 individuals of diverse ethnicities. The resulting catalogue of human genetic diversity has unprecedented resolution, with an average of one variant every eight bases of coding sequence and the presence of widespread mutational recurrence. The deep catalogue of variation provided by the Exome Aggregation Consortium (ExAC) can be used to calculate objective metrics of pathogenicity for sequence variants, and to identify genes subject to strong selection against various classes of mutation; we identify 3,230 genes with near-complete depletion of truncating variants, 79% of which have no currently established human disease phenotype. Finally, we show that these data can be used for the efficient filtering of candidate disease-causing variants, and for the discovery of human knockout variants in protein-coding genes.

Analysing qualitative data.

Abstract: EvERyoNE who has ever undertaken qualitative research knows that there are multiple complex challenges throughout all stages of the research process. After the initial idea for a research project has emerged and developed, the researcher needs to make important decisions and choices about what methods to use, how to collect the data, how to analyse that data and, in the end, how to present the data in a meaningful way. whatever methodological decisions are made and however the data is collected, the result is usually a large amount of data and it is the analysis of that data that can prove most challenging and can be the most time consuming part of the entire research project. Those new to qualitative research often underestimate both the volume of data they will collect and the complexity involved in the analysis of it. Even for experienced researchers data analysis can be the most difficult part of the research process, but it gets easier with practice and by drawing on the experiences of others. There are many good methodology books describing the multiple stages of qualitative research methods, which can prove valuable for researchers when planning a new project. however, some of the most useful guidance and advice comes from the writing of those who have been through the process and have described their own practical experiences. Reading about the experiences of others brings the research into the real world and extends beyond theoretical perspectives. In this edition of Nurse Researcher the three themed papers offer a useful insight into different aspects of qualitative data analysis. They focus on some of the common challenges facing researchers and how these might be overcome.

Polypeptide with Broad Biological Activity: Isolation from Small Intestine

Abstract: A polypeptide, which has potent and diverse biological action-including systemic vasodilation, hypotension, increased cardiac output, respiratory stimulation, and hyperglycemia-was isolated from the small intestine of the hog. The peptide has 28 amino acid residues and is chemically distinct from the kinins, "substance P," glucagon, and secretin.