Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers

التفاصيل البيبلوغرافية
العنوان: Manhattan++: displaying genome-wide association summary statistics with multiple annotation layers
المؤلفون: Martin Farrall, Hugh Watkins, Christopher Grace, Anuj Goel
المصدر: BMC Bioinformatics
BMC Bioinformatics, Vol 20, Iss 1, Pp 1-5 (2019)
بيانات النشر: BioMed Central, 2019.
سنة النشر: 2019
مصطلحات موضوعية: Computer science, Locus (genetics), Genome-wide association study, lcsh:Computer applications to medicine. Medical informatics, Biochemistry, Polymorphism, Single Nucleotide, Manhattan plot, 03 medical and health sciences, Annotation, 0302 clinical medicine, Software, Structural Biology, CRAN, GWAS, Humans, Plot (narrative), Molecular Biology, Allele frequency, lcsh:QH301-705.5, 030304 developmental biology, 0303 health sciences, Information retrieval, Genome, business.industry, Applied Mathematics, Molecular Sequence Annotation, Computer Science Applications, Minor allele frequency, Meta-analysis, lcsh:Biology (General), 030220 oncology & carcinogenesis, lcsh:R858-859.7, business, Genome-Wide Association Study
الوصف: Background Over the last 10 years, there have been over 3300 genome-wide association studies (GWAS). Almost every GWAS study provides a Manhattan plot either as a main figure or in the supplement. Several software packages can generate a Manhattan plot, but they are all limited in the extent to which they can annotate gene-names, allele frequencies, and variants having high impact on gene function or provide any other added information or flexibility. Furthermore, in a conventional Manhattan plot, there is no way of distinguishing a locus identified due to a single variant with very significant p-value from a locus with multiple variants which appear to be in a haplotype block having very similar p-values. Results Here we present a software tool written in R, which generates a transposed Manhattan plot along with additional features like variant consequence and minor allele frequency to annotate the plot and addresses these limitations. The software also gives flexibility on how and where the user wants to display the annotations. The software can be downloaded from CRAN repository and also from the GitHub project page. Conclusions We present a major step up to the existing conventional Manhattan plot generation tools. We hope this form of display along with the added annotations will bring more insight to the reader from this new Manhattan++ plot.
اللغة: English
تدمد: 1471-2105
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::021a40d924df740621cf4d567f7dd376Test
http://europepmc.org/articles/PMC6882345Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....021a40d924df740621cf4d567f7dd376
قاعدة البيانات: OpenAIRE