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CAGI experiments: modeling sequence variant impact on gene splicing using predictions from computational tools

Improving predictions of phenotypic consequences for genomic variants is part of ongoing efforts in the scientific community to gain meaningful insights into genomic function. Within the framework of the Critical Assessment of Genome Interpretation (CAGI) experiments, we participated in the Vex-seq...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Gotea, Valer, Margolin, Gennady, Elnitski, Laura
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744343/
https://ncbi.nlm.nih.gov/pubmed/31066132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23782
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