Search for compound heterozygous effects in exome sequence of unrelated subjects

To enable the assessment of compound heterozygosity, we propose a simple approach for incorporating genotype phase in a rare variant collapsing procedure for the analysis of DNA sequence data. When multiple variants are identified within a gene, knowing the phase of each variant may provide addition...

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Detalles Bibliográficos
Autores principales: Christensen, G Bryce, Lambert, Christophe G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Proceedings
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287937/
https://www.ncbi.nlm.nih.gov/pubmed/22373223
http://dx.doi.org/10.1186/1753-6561-5-S9-S95

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3287937/
https://www.ncbi.nlm.nih.gov/pubmed/22373223
http://dx.doi.org/10.1186/1753-6561-5-S9-S95

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