D8.1 - Genomics Data Standardization Plan
Our second public deliverable -GenoMed4All’s Standardization Plan-has been uploaded to Zenodo!
Abstract
Minimum set of recommended standards for the analysis and sharing of the genomics dataset for haematology and oncology to be utilized in the GenoMed4All project. Furthermore, guidelines are also described to share phenotypic and other metadata collected from different clinical partners. A brief description of data harmonization and sharing using GA4GH phenopackets and FHIR standards, evaluation of best suited exchange format for genomics data and how to adapt and calibrate standardized data on local sites according to evaluation of clinical data set and genomics interface.
Webinar series: an Introduction to Genomics and Data processing
On April 14th, 2021 GenoMed4All hosted the first in a series of webinars: an introductory session on Genomics and Data processing.
The agenda:
1. Genomics fundamentals: our colleague Babita walked us through a brief introduction to the biological foundations of Genomics and Bioinformatics, common data formats and different Genome Sequencing techniques.
2. Genomic analysis: next up was Genís, who explained in detail the processes of genomic analysis: from mapping, to variant calling, joint genotyping and annotation.
3. Clinical data standards - FHIR, Phenopackets, Beacons: to wrap up the session, Vincent gave us an insightful overview of clinical data standards, their main applications and their relevance in the context of GenoMed4All.
Sounds interesting? Check out the video below for the full session recording!