Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
The identification of disease-causing mutations in next-generation sequencing (NGS) data requires efficient filtering techniques. In patients with rare recessive diseases, compound heterozygosity of pathogenic mutations is the most likely inheritance model if the parents are non-consanguineous. We d...
| Main Authors: | , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Public Library of Science
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3734130/ |