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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Bioinformatics
Hauptverfasser: Toptaş, Berke Ç, Rakocevic, Goran, Kómár, Péter, Kural, Deniz
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2018
Schlagworte:
Online Zugang: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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