Concepedia

Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

Çiğdem Sevim Bayrak, David Stein, Aayushee Jain, Kumardeep Chaudhary, Girish N. Nadkarni, Tielman Van Vleck, Anne Puel, Stéphanie Boisson‐Dupuis, Satoshi Okada, Peter D. Stenson,

The American Journal of Human Genetics · 2021 · 56 citations · 79 references

Open access

Concepts

Life SciencesBioinformaticsGeneticsGenomicsHuman GeneticsMedical GeneticsFunctional GenomicsGenotype-phenotype Association AnalysisVariant AnalysisVariant ClassificationVariant DetectionVariant InterpretationGain-of-function VariantsLoss-of-function Variant AnalysisLoss-of-function VariantsPathogenic Variant ClassificationPathogenic Variant DetectionPathogenicity ClassificationVariant Pathogenicity Classification

References

79

Scikit-learn: Machine Learning in Python

Fabián Pedregosa, Gaël Varoquaux, Alexandre Gramfort et al. · arXiv (Cornell University) · 2012 · 63.7K citations · Full text

Computing, Computer Science, Artificial Intelligence +10

Gene Ontology: tool for the unification of biology

Michael Ashburner, Catherine A. Ball, Judith A. Blake et al. · Nature Genetics · 2000 · 44.6K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +9

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

The Pfam Protein Families Database

Alex Bateman · Nucleic Acids Research · 2002 · 14.2K citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +16

<b>mice</b>: Multivariate Imputation by Chained Equations in<i>R</i>

Stef van Buuren, Karin Groothuis‐Oudshoorn · Journal of Statistical Software · 2011 · 13.6K citations · Full text

Public Health, Biostatistics, Computational Biology +13