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Pedigree based DNA sequencing pipeline for germline genomes of cancer families

BACKGROUND: In the course of our whole-genome sequencing efforts, we have developed a pipeline for analyzing germline genomes from Mendelian types of cancer pedigrees (familial cancer variant prioritization pipeline, FCVPP). RESULTS: The variant calling step distinguishes two types of genomic varian...

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Detalles Bibliográficos
Autores principales: Försti, Asta, Kumar, Abhishek, Paramasivam, Nagarajan, Schlesner, Matthias, Catalano, Calogerina, Dymerska, Dagmara, Lubinski, Jan, Eils, Roland, Hemminki, Kari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977614/
https://www.ncbi.nlm.nih.gov/pubmed/27508007
http://dx.doi.org/10.1186/s13053-016-0058-1