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Pathology Portal Genetics and Genomics Home Pathology Portal Genetics and Genomics

Pathology Portal

Omics techniques and their application to genomic medicine

Basis of genotyping and detection of genetic variation.

Whole exome and whole genome sequencing chemistries and platforms.

Overview of methodologies including Sanger sequencing, qFPCR, MLPA, aCGH, FISH.

Genomic testing strategies as gene focused, multiple genes, or whole genome or exome, and for detection of sequence, copy number

Current methodologies to assess the transcriptome to include RNA expression profiling (expression array) and RNA sequencing.

Overview of the metabolome and proteome, and how these change because of disease pathology.

Overview of the methodologies that can be used to assess the metabolome and proteome.

Overview of transcriptome, metabolome and proteome's role in interpretation of genomic information.

Overview of bioinformatics approaches to the analysis of genomic data.

Approaches to the evaluation of pathogenicity of variants in the context of an NHS clinical report.

Exploring Gene Ontology, GO annotations, tools and resources

Type: Video - 59 min 53 sec

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Authored by Antonia Lock, The European Molecular Biology Laboratory-European Bioinformatics Institute's (EMBL-EBI). - Mahesh Prahladan, Pathology Portal

Exploring somatic mutations in cancer with COSMIC database and analysis tools

Type: Case

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Authored by Test