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Comparing complex variants in family trios

MOTIVATION: Several tools exist to count Mendelian violations in family trios by comparing variants at the same genomic positions. This naive variant comparison, however, fails to assess regions where multiple variants need to be examined together, resulting in reduced accuracy of existing Mendelian...

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Detalles Bibliográficos
Autores principales: Toptaş, Berke Ç, Rakocevic, Goran, Kómár, Péter, Kural, Deniz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289131/
https://www.ncbi.nlm.nih.gov/pubmed/29868720
http://dx.doi.org/10.1093/bioinformatics/bty443