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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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Bibliografiske detaljer
Udgivet i:Hum Mutat
Main Authors: Gotea, Valer, Margolin, Gennady, Elnitski, Laura
Format: Artigo
Sprog:Inglês
Udgivet: 2019
Fag:
Online adgang: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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