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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Public Library of Science
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3734130/ https://ncbi.nlm.nih.gov/pubmed/23940540 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0070151 |
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