Krawitz, 2022 - Google Patents

A national diagnostic framework for patients with ultra-rare disorders: molecular genetic findings using phenotypic and sequencing data

Krawitz, 2022

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Document ID
567960582078086633
Author
Krawitz P
Publication year

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Most individuals with rare diseases rst contact primary care physicians. Although e cient diagnostic routines exist for a subset of rare diseases, ultra-rare entities often require expert clinical knowledge or comprehensive genetic diagnostics, which poses structural challenges …
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    • G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
    • G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
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