Purpose

The purpose of this document is to provide NHS clinical scientists, clinicians and other Generation Study stakeholders with a guide to the Genomics England workflow for data analysis and variant prioritisation in Generation Study newborn screening programme.

This guide includes the processes carried out from the receipt of the newborn participant and genome sequencing data until the presentation of data in the Variant Review Tool (VRT).

In scope

Description of the whole genome sequencing analysis performed in the Newborn Screening Pipeline version, including quality control steps, variant detection and variant prioritisation.

Out of scope

• Description of how conditions are selected to be included in the screening.
• Description of the Variant Review Tool (VRT).
• Description of manual interpretation and production of research reports for variants prioritised by the automated pipeline within the Generation Study.

Target audience

• NHS clinical scientists
• Clinicians
• NHS Genomic Laboratory Hubs members
• Other Generation Study stakeholders.