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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

DocumentVersionLink



Illumina Whole Genome Sequencing Services Guide



December 2015



Illumina Cancer Analysis Services Guide



December 2015



Rare Disease Results Guide



v5.0



Cancer Genome Analysis Guide



v1.11



PanelApp Handbook



v7



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



v10



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



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Publications and other useful links

PublicationURL
Improved exome prioritization of disease genes through cross-species phenotype comparisonhttps://www.ncbi.nlm.nih.gov/pubmed/24162188
Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platformshttps://www.ncbi.nlm.nih.gov/pubmed/23736529
Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairshttps://www.ncbi.nlm.nih.gov/pubmed/22581179
Strelka2: fast and accurate calling of germline and somatic variantshttps://www.ncbi.nlm.nih.gov/pubmed/30013048
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applicationshttps://www.ncbi.nlm.nih.gov/pubmed/26647377
Canvas: versatile and scalable detection of copy number variantshttps://www.ncbi.nlm.nih.gov/pubmed/27153601
ExpansionHunter: Detection of long repeat expansions from PCR-free whole-genome sequence datahttps://www.ncbi.nlm.nih.gov/pubmed/28887402
Platypus: a tool designed for efficient and accurate variant-detection in high-throughput sequencing datahttps://www.ncbi.nlm.nih.gov/pubmed/25017105
Signatures of Mutational Processes in Human Cancerhttps://cancer.sanger.ac.uk/cosmic/signatures
PONnoise50SNV: SNVs resulting from systematic mapping and calling artefacts

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