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A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders
Exome sequencing of parent-offspring trios is a popular strategy for identifying causative genetic variants in children with rare diseases. This method owes its strength to the leveraging of inheritance information, which facilitates de novo variant calling, inference of compound heterozygosity, and...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975066/ https://www.ncbi.nlm.nih.gov/pubmed/24356988 http://dx.doi.org/10.1101/gr.160465.113 |