shinyseg: a web application for flexible cosegregation and sensitivity analysis.
Bioinformatics
; 40(5)2024 May 02.
Article
en En
| MEDLINE
| ID: mdl-38598476
ABSTRACT
MOTIVATION Cosegregation analysis is a powerful tool for identifying pathogenic genetic variants, but its implementation remains challenging. Existing software is either limited in scope or too demanding for many end users. Moreover, current solutions lack methods for assessing the robustness of cosegregation evidence, which is important due to its reliance on uncertain estimates. RESULTS:
We present shinyseg, a comprehensive web application for clinical cosegregation analysis. Our app streamlines penetrance specification based on either liability classes or epidemiological data such as risks, hazard ratios, and age of onset distribution. In addition, it incorporates sensitivity analyses to assess the robustness of cosegregation evidence, and offers support in clinical interpretation. AVAILABILITY AND IMPLEMENTATION The shinyseg app is freely available at https//chrcarrizosa.shinyapps.io/shinyseg, with documentation and complete R source code on https//chrcarrizosa.github.io/shinyseg and https//github.com/chrcarrizosa/shinyseg.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Programas Informáticos
/
Internet
Límite:
Humans
Idioma:
En
Revista:
Bioinformatics
Asunto de la revista:
INFORMATICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Noruega