cgmisc: enhanced genome-wide association analyses and visualization.

Bioinformatics

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden, Broad Institute of MIT and Harvard, Boston, MA, USA.

Published: December 2015

Unlabelled: High-throughput genotyping and sequencing technologies facilitate studies of complex genetic traits and provide new research opportunities. The increasing popularity of genome-wide association studies (GWAS) leads to the discovery of new associated loci and a better understanding of the genetic architecture underlying not only diseases, but also other monogenic and complex phenotypes. Several softwares are available for performing GWAS analyses, R environment being one of them.

Results: We present cgmisc, an R package that enables enhanced data analysis and visualization of results from GWAS. The package contains several utilities and modules that complement and enhance the functionality of the existing software. It also provides several tools for advanced visualization of genomic data and utilizes the power of the R language to aid in preparation of publication-quality figures. Some of the package functions are specific for the domestic dog (Canis familiaris) data.

Availability And Implementation: The package is operating system-independent and is available from: https://github.com/cgmisc-team/cgmisc

Contact: marcin.kierczak@imbim.uu.se.

Supplementary Information: Supplementary data are available at Bioinformatics online.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653382PMC
http://dx.doi.org/10.1093/bioinformatics/btv426DOI Listing

Publication Analysis

Top Keywords

genome-wide association
8
cgmisc enhanced
4
enhanced genome-wide
4
association analyses
4
analyses visualization
4
visualization unlabelled
4
unlabelled high-throughput
4
high-throughput genotyping
4
genotyping sequencing
4
sequencing technologies
4

Similar Publications

The genetics of neurodegenerative diseases is the genetics of age-related damage clearance failure.

Mol Psychiatry

January 2025

Department of Psychological Medicine and Clinical Neuroscience, Cardiff University, United Kingdom and UK Dementia Research Institute at Cardiff, Cardiff University, Cardiff, UK.

In this perspective we draw together the data from the genome wide association studies for Alzheimer's disease, Parkinson's disease and the tauopathies and reach the conclusion that in each case, most of the risk loci are involved in the clearance of the deposited proteins: in Alzheimer's disease, the microglial removal of Aβ, in the synucleinopathies, the lysosomal clearance of synuclein and in the tauopathies, the removal of tau protein by the ubiquitin proteasome. We make the point that most loci identified through genome wide association studies are not strictly pathogenic but rather relate to failures to remove age related damage. We discuss these issues in the context of copathologies in elderly individuals and the prediction of disease through polygenic risk score analysis at different ages.

View Article and Find Full Text PDF

Causal Links Between Bone Diseases and Temporomandibular Disorders.

Int Dent J

January 2025

Department of Prosthodontics, Taiyuan Conatant lun Dental Hospital, Taiyuan, 030001, Shanxi, China.

Introduction And Aims: Epidemiological observational studies have explored the link between bone joint-related diseases and temporomandibular disorders (TMD), but inconsistent conclusions have emerged due to various limitations. This study aims to investigate the causal relationship between bone joint-related diseases and TMD using Mendelian randomization (MR).

Methods: We utilized a two-sample MR design, applying pooled genome-wide association study (GWAS) data from six subtypes of bone and joint diseases and TMD.

View Article and Find Full Text PDF

Emerging insights into the genetics and evolution of human same-sex sexual behavior.

Trends Genet

January 2025

Centre for Psychology and Evolution, School of Psychology, University of Queensland, Queensland, Australia.

Thanks to twin studies, it has been known for decades that human same-sex sexual behavior (SSB) has a substantial heritable component. However, only recently have large genome-wide association studies (GWAS) begun to illuminate the complex genetics involved. These studies have established that SSB is influenced by many common genetic variants, each with tiny but cumulative effects.

View Article and Find Full Text PDF

Functional impairment in COPD can be predicted using genomic-derived data.

Thorax

January 2025

Genome Medicine Laboratory, Institute of Biomedicine (iBiMED), Department of Medical Sciences, University of Aveiro, Aveiro, Portugal

Objective: Reduced functional capacity and muscle weakness are two major contributors to functional impairment in chronic obstructive pulmonary disease (COPD). The underlying causes of functional impairment are poorly understood and, therefore, we sought to investigate the contribution of genetic factors.

Methods: We conducted a cross-sectional analysis of sociodemographic, clinical and genetic information of people with COPD.

View Article and Find Full Text PDF

Pelvic floor disorder (PFD) is a common gynecological disorder, and with the ageing of the population, PFD has a serious impact on the physical and mental health of patients and their quality of life. The most prominent of these are pelvic organ prolapse (POP) and urinary incontinence (UI), about which the etiology is still unclear, and it is urgent to explore their pathogenesis. Advances in genetics and epigenetics have provided new insights into the pathophysiology of PFD.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!