Future directions for high‐throughput splicing assays in precision medicine-Reference-Cited by-同舟云学术

Future directions for high‐throughput splicing assays in precision medicine

Published:2019-09 Issue:9 Volume:40 Page:1225-1234
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rhine Christy L.¹,Neil Christopher¹,Glidden David T.²^ORCID,Cygan Kamil J.¹²,Fredericks Alger M.¹,Wang Jing¹,Walton Nephi A.³,Fairbrother William G.¹²⁴

Affiliation:

1. Molecular Biology, Cell Biology and BiochemistryBrown University Providence Rhode Island

2. Center for Computational Molecular BiologyBrown University Providence Rhode Island

3. Genomic Medicine Institute, Geisinger Danville Pennsylvania

4. Hassenfeld Child Health Innovation Institute of Brown University Providence Rhode Island

Funder

National Human Genome Research Institute

National Institute of General Medical Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23866

Reference43 articles.

1. A Protein-TruncatingHSD17B13Variant and Protection from Chronic Liver Disease

2. Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency

3. Combinatorial Genetics Reveals a Scaling Law for the Effects of Mutations on Splicing

4. COSSMO: predicting competitive alternative splice site selection using deep learning

5. Variant-aware saturating mutagenesis using multiple Cas9 nucleases identifies regulatory elements at trait-associated loci

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