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Please find below some useful links and publications to help you navigate and understand the data.

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Research Environment Useful Links

Technical Documentation


Illumina Whole Genome Sequencing Services Guide

December 2015

Illumina Cancer Analysis Services Guide

December 2015

Rare Disease Results Guide


Cancer Genome Analysis Guide


PanelApp Handbook


International statistical classification of diseases and related health problems (ICD-10)


Exomiser (Improved exome prioritization of disease genes through cross-species phenotype comparison)


Rare Disease Conditions Phenotypes and Clinical Tests (Clinical Data Models)v1.9.0

Publications and other useful links

Improved exome prioritization of disease genes through cross-species phenotype comparison
Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
Strelka2: fast and accurate calling of germline and somatic variants
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
Canvas: versatile and scalable detection of copy number variants
ExpansionHunter: Detection of long repeat expansions from PCR-free whole-genome sequence data
Platypus: a tool designed for efficient and accurate variant-detection in high-throughput sequencing data
Signatures of Mutational Processes in Human Cancer
PONnoise50SNV: SNVs resulting from systematic mapping and calling artefacts

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