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A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders
Biomedical Sciences: Molecular Biology and Human Genetics
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| Main Author: | |
|---|---|
| Other Authors: | |
| Format: | Thesis |
| Language: | en_ZA |
| Published: |
2023
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| Subjects: | |
| Tags: |
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| _version_ | 1867613947333443584 |
|---|---|
| access_status_str | Open Access |
| author | Theron, Alannah |
| author2 | Moosa, Shahida |
| author_browse | Moosa, Shahida Theron, Alannah |
| author_facet | Moosa, Shahida Theron, Alannah |
| author_sort | Theron, Alannah |
| collection | Thesis |
| description | Biomedical Sciences: Molecular Biology and Human Genetics |
| format | Thesis |
| id | oai:scholar.sun.ac.za:10019.1/129419 |
| institution | Stellenbosch University (South Africa) |
| language | en_ZA |
| last_indexed | 2026-06-10T12:44:14.442Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from SUNScholar — Stellenbosch University Repository |
| publishDate | 2023 |
| publishDateRange | 2023 |
| publishDateSort | 2023 |
| record_format | dspace |
| source_str | SUNScholar — Stellenbosch University Repository |
| spelling | oai:scholar.sun.ac.za:10019.1/129419 A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders Theron, Alannah Moosa, Shahida Next generation sequencing, rare diseases, Python, Human genetics Biomedical Sciences: Molecular Biology and Human Genetics 2023-11-16T18:25:51Z 2024-02-20T10:56:30Z 2023-11-16T18:25:51Z 2024-02-20T10:56:30Z 2023-11-16 Masters https://scholar.sun.ac.za/handle/10019.1/129419 en_ZA application/pdf |
| spellingShingle | Next generation sequencing, rare diseases, Python, Human genetics Theron, Alannah A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders |
| thesis_degree_str | Master's |
| title | A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders |
| title_full | A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders |
| title_fullStr | A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders |
| title_full_unstemmed | A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders |
| title_short | A novel Python-based variant prioritisation tool for diagnosing patients with monogenic disorders |
| title_sort | novel python based variant prioritisation tool for diagnosing patients with monogenic disorders |
| topic | Next generation sequencing, rare diseases, Python, Human genetics |
| url | https://scholar.sun.ac.za/handle/10019.1/129419 |
| work_keys_str_mv | AT theronalannah anovelpythonbasedvariantprioritisationtoolfordiagnosingpatientswithmonogenicdisorders AT theronalannah novelpythonbasedvariantprioritisationtoolfordiagnosingpatientswithmonogenicdisorders |