Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2021 Jun 1;29(9):1337–1347. doi: 10.1038/s41431-021-00852-7

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

PMC Copyright notice

Fig. 1 — Unsolved cases (RD-REAL datasets = phenotypic and genomic data) are submitted by Solve-RD members from the 4 core ERNs and the 2 UDPs participating in the project. Genomic data is processed through a standard analysis pipeline [15] and integrated with the phenotypic information in the RD-Connect GPAP. Analysis of the data using the programmatic approach described in this study is performed by the SNV-indel working group. The SNV-indel working group is one of the seven working groups established by the Solve-RD Data Analysis Task Force (DATF) to massively reanalyse data with different analytical approaches (e.g. CNV, somatic, meta-analysis, etc.) (http://solve-rd.eu/the-group/data-analysis-task-force/). The DATF involves data scientists and genomics experts from the project. Resulting candidate variants are submitted to the Data Interpretation Task Force (DITF), involving expert clinicians and geneticists for prioritisation and final interpretation. One DITF has been established for each of the core ERNs participating in the project (http://solve-rd.eu/the-group/data-interpretation-task-force-ditf/). DITF include or are in contact with case submitters to enable a final decision for a new patient diagnosis. Diagnosed cases are automatically updated in the system and the remaining unsolved cases are susceptible to re-enter a new round of analysis.