What went wrong with variant effect predictor performance for the PCM1 challenge-Reference-Cited by-同舟云学术

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What went wrong with variant effect predictor performance for the PCM1 challenge

Published:2019-09 Issue:9 Volume:40 Page:1486-1494
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Miller Maximilian¹^ORCID,Wang Yanran¹,Bromberg Yana¹^ORCID

Affiliation:

1. Department of Biochemistry and MicrobiologyRutgers University New Brunswick New Jersey

Funder

NIH Clinical Center

Health Services and Delivery Research Programme

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23832

Reference50 articles.

1. Predicting functional effect of human missense mutations using PolyPhen‐2;Adzhubei I.;Current Protocols in Human Genetics,2013

2. A method and server for predicting damaging missense mutations

3. ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

4. Molecular genetic characterization of myeloid/lymphoid neoplasms associated with eosinophilia and rearrangement of PDGFRA, PDGFRB, FGFR1 or PCM1-JAK2

5. UniProtKB/Swiss-Prot, the Manually Annotated Section of the UniProt KnowledgeBase: How to Use the Entry View

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1. Understanding the heterogeneous performance of variant effect predictors across human protein-coding genes;2024-06-14

2. CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods;Genome Biology;2024-02-22

3. Computational approaches for predicting variant impact: An overview from resources, principles to applications;Frontiers in Genetics;2022-09-29

4. Interpreting protein variant effects with computational predictors and deep mutational scanning;Disease Models & Mechanisms;2022-06-01

5. Genome interpretation using in silico predictors of variant impact;Human Genetics;2022-04-30

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