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1
The power of multiplexed functional analysis of genetic variants.
Nat Protoc. 2016 Oct;11(10):1782-7. doi: 10.1038/nprot.2016.135. Epub 2016 Sep 1.
2
satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect.
Genome Biol. 2023 Apr 20;24(1):82. doi: 10.1186/s13059-023-02922-z.
3
Meet me halfway: when genomics meets structural bioinformatics.
J Cardiovasc Transl Res. 2011 Jun;4(3):281-303. doi: 10.1007/s12265-011-9259-1. Epub 2011 Feb 25.
4
An Atlas of Variant Effects to understand the genome at nucleotide resolution.
Genome Biol. 2023 Jul 3;24(1):147. doi: 10.1186/s13059-023-02986-x.
5
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.
Brief Bioinform. 2016 Sep;17(5):841-62. doi: 10.1093/bib/bbv084. Epub 2015 Oct 22.
6
Multiplexed assays of variant effects contribute to a growing genotype-phenotype atlas.
Hum Genet. 2018 Sep;137(9):665-678. doi: 10.1007/s00439-018-1916-x. Epub 2018 Aug 2.
8
Residue specific contributions to stability and activity inferred from saturation mutagenesis and deep sequencing.
Curr Opin Struct Biol. 2014 Feb;24:63-71. doi: 10.1016/j.sbi.2013.12.001. Epub 2014 Jan 7.
10
Measuring the activity of protein variants on a large scale using deep mutational scanning.
Nat Protoc. 2014 Sep;9(9):2267-84. doi: 10.1038/nprot.2014.153. Epub 2014 Aug 28.

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Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.
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Multiplexed assays of variant effect for clinical variant interpretation.
Nat Rev Genet. 2025 Jul 21. doi: 10.1038/s41576-025-00870-x.
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It's prime time for multiplexed prime editing.
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Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.
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High-throughput screening of human genetic variants by pooled prime editing.
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Deep CRISPR mutagenesis characterizes the functional diversity of TP53 mutations.
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9
Understanding genetic variants in context.
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Precision mutational scanning: your multipass to the future of genetics.
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本文引用的文献

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Analysis of protein-coding genetic variation in 60,706 humans.
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A Statistical Guide to the Design of Deep Mutational Scanning Experiments.
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Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits.
Cell. 2016 Jun 2;165(6):1530-1545. doi: 10.1016/j.cell.2016.04.048.
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Local fitness landscape of the green fluorescent protein.
Nature. 2016 May 19;533(7603):397-401. doi: 10.1038/nature17995. Epub 2016 May 11.
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Comprehensive Analysis of the SUL1 Promoter of Saccharomyces cerevisiae.
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ClinVar: public archive of interpretations of clinically relevant variants.
Nucleic Acids Res. 2016 Jan 4;44(D1):D862-8. doi: 10.1093/nar/gkv1222. Epub 2015 Nov 17.
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Learning the sequence determinants of alternative splicing from millions of random sequences.
Cell. 2015 Oct 22;163(3):698-711. doi: 10.1016/j.cell.2015.09.054.
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BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis.
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