Homozygous duplication identified by whole genome sequencing causes LRBA deficiency
Abstract In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by other genomics platforms, enabling the molecular diag...
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| Auteurs principaux: | , , , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/28825eb4a8ee44ae8a4339e8b884b577 |
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