Interpreting the clinical genome with DECIPHER

PrerequisitesNew

DECIPHER is a collaborative data sharing and interpretation platform that enables the secure upload, analysis and subsequent sharing of anonymised phenotype-linked patient variant data in rare genetic disorders.

DECIPHER is a worldwide user community of over 250 clinical genetics centres and research groups from over 40 countries that utilise the built-in tools for aiding the interpretation of variants as well as to discover other patients that share similar phenotype and genomic findings.

DECIPHER facilitates collaboration and exchange of information between a global community of clinical centers and researchers leading thereby accelerating discovery and diagnosis. Access to consented anonymised records is free to all users. User accounts are provided to bona-fide clinicians and lab scientists to enable deposition and sharing of anonymised patient data.

The purpose of this half-day workshop is to acquaint participants with the DECIPHER website and database and introduce the various built-in tools for visualisation and interpretation of phenotype-linked genomic variation in anonymised consented patient data. It is hoped that by the end of this workshop, users will be able to carry out effective searches of data, use the built-in genome browser to visualise variation in context of other pathogenic and reference data sources, find other patients with similar variants and shared phenotypes, and identify most likely causes of phenotypic presentation by gene prioritisation.

Please note that if you are not eligible for a University of Cambridge Raven account you will need to Book or register Interest by linking here.

• This course is suitable for all users who have an interest in Clinical Genetics with a special emphasis on rare disorders. It is also pertinent to those who seek to develop a better understanding of the role of accurate phenotyping in aiding the interpretation of filtered variants in patients and understanding genotype-phenotype correlations.
• Graduate students, Postdocs and Staff members from the University of Cambridge, Affiliated Institutions and other external Institutions or individuals
• Further details regarding eligibility criteria are available here
• Further details regarding the charging policy are available here

Some prior knowledge of basic genetics and familiarity with some existing reference sources (Ensembl, OMIM) is desirable to make the best use of this course.

Number of sessions: 1

Bioinformatics, Data retrieval, Database search, Genomics, Genotype and phenotype, Rare diseases

After this course you should be able to:

• Better understand the clinical genetics landscape
• Find information in DECIPHER
• Understand genotype-phenotype correlations
• Visualise and interpret genetic variation
• Discriminate between pathogenic and benign variation
• Discover other patients with similar genomic findings and shared phenotypes

During this course you will learn about:

• The DECIPHER Project
  • Using the Genoverse Browser
  • Simple and Advanced searching in DECIPHER
  • Interpreting search results
  • Patient Pages
  • Understanding genotype and phenotypes
  • Finding other patients with similar phenotypes and genomic findings
  • Visualising patient variant data

• Hands-on tutorial will cover:
  • Creation of patient records
  • Adding phenotypes and variants
  • Visualisation and exploration of a typical patient finding
  • Interpretation of results using DECIPHER

Presentations, demonstrations and practicals

0.5

A number of times per year