Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations-Reference-Cited by-同舟云学术

Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations

Published:2020-07 Issue:7 Volume:16 Page:
ISSN:1744-4292
Container-title:Molecular Systems Biology
language:en
Short-container-title:Molecular Systems Biology

Author:

Livesey Benjamin J¹,Marsh Joseph A¹^ORCID

Affiliation:

1. MRC Human Genetics Unit Institute of Genetics and Molecular Medicine University of Edinburgh Edinburgh UK

Funder

Lister Institute of Preventive Medicine

Publisher

EMBO

Subject

Applied Mathematics,Computational Theory and Mathematics,General Agricultural and Biological Sciences,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,Information Systems

Link

https://onlinelibrary.wiley.com/doi/pdf/10.15252/msb.20199380

Reference66 articles.

1. Protein Model Discrimination Using Mutational Sensitivity Derived from Deep Sequencing

2. A method and server for predicting damaging missense mutations

3. Deconstruction of the Ras switching cycle through saturation mutagenesis

4. Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations

5. The role of protein complexes in human genetic disease

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