Services
Discovery Genomics

Discovery
Genomics

Delivering research genomics and data analysis at scale
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The Genome.One data analysis platform comprises a scalable variant store that supports the housing of genetic variants from cohorts of whole human genomes, exomes and panels. The platform can be used to segment and subset cohort participant samples based on clinical traits, or phenotypes, as well as variant characteristics. It supports compound filtering of variant annotations, and for data scientists it offers web-based notebooks that enable interactive data analytics at scale.

Features and Functions

Genome queries

Genome queries based on coordinates or gene names, together with name prompting

User authentication

Includes two-factor authentication and IP access control

Query results

Query results comprise summary statistics of the region, including allelic frequencies of all variants present

Genome browser

A genome browser is available to show the location of each variant in the context of the gene structure

Variants

Variants can be filtered using a highly intuitive filtering interface

Tabular view

In the tabular view, each row of variants supports the searching for that particular variant in the Global Alliance for Genomics and Health Beacon network

Personalised analysis

The platform supports web-based notebooks for data scientists to analyse their cohort data. The underlying scalable Apache Spark Infrastructure comes pre-installed with Hail

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