Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome
Abstract Background Lynch syndrome (LS) is a cancer predisposition syndrome affecting more than 1 in every 300 individuals worldwide. Clinical genetic testing for LS can be life-saving but is complicated by the heavy burden of variants of uncertain significance (VUS), especially missense changes. Re...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Jezik: | angleščina |
| Izdano: |
2022
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| Online dostop: | https://doi.org/10.1186/s13059-022-02839-z https://genomebiology.biomedcentral.com/counter/pdf/10.1186/s13059-022-02839-z |
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