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CATCHing putative causative variants in consanguineous families
BACKGROUND: Consanguinity is an important risk factor for autosomal recessive (AR) disorders. Extended genomic regions identical by descent (IBD) in the offspring of consanguineous parents give rise to recessive disorders with identical (homozygous) pathogenic variants in both alleles. However, many...
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| Veröffentlicht in: | BMC Bioinformatics |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4587650/ https://ncbi.nlm.nih.gov/pubmed/26415661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-015-0727-5 |
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