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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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Publicat a:Bioinformatics
Autors principals: Toptaş, Berke Ç, Rakocevic, Goran, Kómár, Péter, Kural, Deniz
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6289131/
https://ncbi.nlm.nih.gov/pubmed/29868720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/bty443
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