Register training material
10 materials found

Target audience: postgrad  or Clinical Scientists 


Compartición, análisis y almacenamiento de datos genómicos con RD-Connect GPAP y EGA

El Centro Nacional de Análisis Genómico (CNAG-CRG) y la European Genome-Phenome Archive (EGA) organizan un curso práctico sobre el uso de herramientas para compartir y analizar datos genómicos en el marco del proyecto VEIS - Valorización de EGA para la Industria y la Sociedad.

En el primer...

Scientific topics: Data integration and warehousing, Database management, Genomics

Resource type: Video

Educational webinars on rare endocrine conditions (ENDO-ERN)

The European Reference Network on rare endocrine conditions (Endo-ERN) aims to improve access to high-quality healthcare for patients with rare hormonal disorders.

Various webinar on rare endocrine conditions are proposed :
- Update on congenital adrenal hyperplasia
- Prophylactic...

Scientific topics: Rare diseases

Keywords: Rare Diseases & Research

Resource type: Webinar, e-learning

Education and Training webinars on genetic tumor risk syndromes (ERN GENTURIS)

Target audience for the webinars are clinicians, genetic counsellors, clinical scientists and other genetics health professionals. The presentation itself lasts approximately 20-30 minutes, and viewers have the opportunity to send questions on the subject area which will be addressed in a...

Scientific topics: Rare diseases

Keywords: Rare Diseases & Research

Resource type: Webinar, e-learning

Genomic Technologies in Clinical Diagnostics: Next Generation Sequencing

This course focuses on genomic sequencing.
Topics covered:
- The changing landscape of genomics: From Sanger sequencing to Next Generation Sequencing
- Overview of Next Generation Sequencing platforms and their methodology
- Targeted resequencing
- Alignment, variant calling and...

Scientific topics: Rare diseases

Keywords: Rare Diseases & Research

Resource type: e-learning

PanelApp Reviewer’s Guide

PanelApp (https://panelapp.genomicsengland.co.uk/) is a database for gene panels for use in disease diagnosis that enables crowdsourcing of expert reviews. This guide provides background, evidence guidelines and a tutorial of how to use the review tool in PanelApp to provide your expert review of...

Scientific topics: Rare diseases, Genomics

Keywords: Gene lists, Genomics, human disease, Biocuration

Resource type: knowledgebase

UNIX Fundamentals

This self-learning tutorial aims to present the UNIX environment and to provide the most basic commands to users with no or very little UNIX knowledge.
The examples are taken from various Biological fields but have been chosen carefully to be easily accessible to a wide audience.
At the end of...

Keywords: Problem based learning, Programming, Unix

Resource type: e-learning

Clinical Bioinformatics I - Tutor notes

Clinical Bioinformatics I is a 10 credit module of the new MSc in Clinical Bioinformatics, delivered by Nowgen/NGRL and the University of Manchester in the UK. Clinical Bioinformatics is one of the streams of the NHS Scientific Training Programme (STP). The programme is a mixture of work...

Keywords: Clinical bioinformatics, Genomics, Introduction bioinformatics

Bioinformatics: Gene-protein-structure-function

This presentation examines the available in silico tools for protein structure and function prediction. It examines the major protein family databases (PROSITE, PRINTS, Pfam, etc.), and explores why tools like PSI-BLAST, while convenient and easy to use, may not always give optimal results. The...

Keywords: Expert systems, Genequiz, Protein family characterisation, Protein family databases, Protein sequence analysis, Psi blast

InterPro: An introduction

This presentation introduces the background to the InterPro database: what it is, where it came from, and what was the vision behind its creation. It examines in particular whether the database has evolved in line with its original vision, and asks whether the resource is still fit for purpose. 

Keywords: Integrated diagnostic tools, Protein family characterisation, Protein sequence analysis

PRINTS: A protein family database with a difference

A presentation designed to introduce the concept of protein family analysis and characterisation using motif-based methods, with a particular focus on protein fingerprinting. Following a general introduction to sequence analysis, and the fingerprint approach, specific examples are given to...

Keywords: Functional diagnosis, Protein family characterisation, Protein sequence analysis