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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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Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: Gotea, Valer, Margolin, Gennady, Elnitski, Laura
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2019
Onderwerpen:
Online toegang: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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