PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data
Abstract Background With the advent of whole exome (ES) and genome sequencing (GS) as tools for disease gene discovery, rare variant filtering, prioritization and data sharing have become essential components of the search for disease genes and variants potentially contributing to disease phenotypes...
Gorde:
| Egile Nagusiak: | , , , , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BMC
2021-08-01
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| Saila: | Orphanet Journal of Rare Diseases |
| Gaiak: | |
| Sarrera elektronikoa: | https://doi.org/10.1186/s13023-021-01916-z |
| Etiketak: |
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