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Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants

De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of interest. To distinguish between inherited and de...

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Dades bibliogràfiques
Publicat a:iScience
Autors principals: Standage, Daniel S., Brown, C. Titus, Hormozdiari, Fereydoun
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6682328/
https://ncbi.nlm.nih.gov/pubmed/31377530
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.isci.2019.07.032
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