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Genome annotation for clinical genomic diagnostics: strengths and weaknesses

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Academic year: 2020

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Figure

Fig. 1 The genome analysis pipeline. Note that, for clarity, some stepshave been omitted
Table 1 Examples of disease-causing variation with associated HGVS nomenclature
Fig. 2 The generic gene model (not to scale).background shadingtranslation of mRNA into protein by ribosomes occurs in the cytosol
Fig. 3 Alternative splicing transcript variants. Different types of alternative splicing can give rise to transcripts that are functionally distinct from anominal reference model
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