A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders

BACKGROUND: Mendelian disorders are mostly caused by single mutations in the DNA sequence of a gene, leading to a phenotype with pathologic consequences. Whole Exome Sequencing of patients can be a cost-effective alternative to standard genetic screenings to find causative mutations of genetic disea...

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Detalles Bibliográficos
Autores principales: Mutarelli, Margherita, Marwah, Veer Singh, Rispoli, Rossella, Carrella, Diego, Dharmalingam, Gopuraja, Oliva, Gennaro, di Bernardo, Diego
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083405/
https://www.ncbi.nlm.nih.gov/pubmed/25078076
http://dx.doi.org/10.1186/1471-2164-15-S3-S5

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