Pages tagged "Cnv"

2020

David Salgado

  • Structural Variants scout team
  • Bioinformatics Research Engineer
  • Marseille Medical Genetics Bioinformatics platform manager

2020-01-16: more ...

Babita Singh

  • Structural Variants scout team lead
  • Post Doctoral Bioinformatics Researcher
  • European Genome-phenome Archive
  • Centre for Genomic Regulation (CRG)
  • PRBB - Barcelona

2020-01-16: more ...

Beacon Structural Variants Team Minutes 2020

@mbaudis 2020-01-15: more ...

Teams: Beacon Structural Variants

The Structural Variants Team evaluates “structural” types of genomic variants with respect to their representation & query through current & future versions of the Beacon API. This scope intersects with work being pursued in the ELIXIR h-CNV community and considers standards under development by the GA4GH GKS workstream.

@mbaudis 2020-01-15: more ...

2019

Example Queries

This page gives examples for query strings against Beacon implementations. This documentation is expected to be expanded over time, with adjustments for the expanding protocol options.

@mbaudis 2019-09-24: more ...

2018

Range Queries and Structural Variants

This page provides some more detailed description of the “4 positions match any continuous region” concept. General examples for variant queries can be found in the “Example Queries” documentation.

@mbaudis 2018-10-17: more ...

Michael Baudis

more ...