Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

Autozygosity mapping is a powerful technique for the identification of rare, autosomal recessive, disease‐causing genes. The ease with which this category of disease gene can be identified has greatly increased through the availability of genome‐wide SNP genotyping microarrays and subsequently of ex...

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Detalles Bibliográficos
Autores principales: Watson, Christopher M., Crinnion, Laura A., Gurgel‐Gianetti, Juliana, Harrison, Sally M., Daly, Catherine, Antanavicuite, Agne, Lascelles, Carolina, Markham, Alexander F., Pena, Sergio D. J., Bonthron, David T., Carr, Ian M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744743/
https://www.ncbi.nlm.nih.gov/pubmed/26037133
http://dx.doi.org/10.1002/humu.22818

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744743/
https://www.ncbi.nlm.nih.gov/pubmed/26037133
http://dx.doi.org/10.1002/humu.22818

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