Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 9
Results: 26
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1266, doi. 10.1002/humu.23265
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- Article
Novel ID gene CSNK2B: The crossover from molecular diagnosis to research continues.
- Published in:
- 2017
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- Publication type:
- Other
Predicting enhancer activity and variant impact using gkm-SVM.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1251, doi. 10.1002/humu.23185
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- Publication type:
- Article
Accurate eQTL prioritization with an ensemble-based framework.
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- Human Mutation, 2017, v. 38, n. 9, p. 1259, doi. 10.1002/humu.23198
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- Publication type:
- Article
PON-P and PON-P2 predictor performance in CAGI challenges: Lessons learned.
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- Human Mutation, 2017, v. 38, n. 9, p. 1085, doi. 10.1002/humu.23199
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- Article
Predicting gene expression in massively parallel reporter assays: A comparative study.
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- Human Mutation, 2017, v. 38, n. 9, p. 1240, doi. 10.1002/humu.23197
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- Publication type:
- Article
Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests.
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- Human Mutation, 2017, v. 38, n. 9, p. 1072, doi. 10.1002/humu.23266
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- Article
Whole-protein alanine-scanning mutagenesis of allostery: A large percentage of a protein can contribute to mechanism.
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- Human Mutation, 2017, v. 38, n. 9, p. 1132, doi. 10.1002/humu.23231
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- Article
Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.
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- Human Mutation, 2017, v. 38, n. 9, p. 1042, doi. 10.1002/humu.23235
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- Publication type:
- Article
Exploring the limits of the usefulness of mutagenesis in studies of allosteric mechanisms.
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- Human Mutation, 2017, v. 38, n. 9, p. 1144, doi. 10.1002/humu.23239
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- Publication type:
- Article
Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges.
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- Human Mutation, 2017, v. 38, n. 9, p. 1109, doi. 10.1002/humu.23267
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- Publication type:
- Article
Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges.
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- Human Mutation, 2017, v. 38, n. 9, p. 1182, doi. 10.1002/humu.23280
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- Publication type:
- Article
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease.
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- Human Mutation, 2017, v. 38, n. 9, p. 1225, doi. 10.1002/humu.23256
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- Publication type:
- Article
CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1169, doi. 10.1002/humu.23257
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- Publication type:
- Article
Missense variant pathogenicity predictors generalize well across a range of function-specific prediction challenges.
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- Human Mutation, 2017, v. 38, n. 9, p. 1092, doi. 10.1002/humu.23258
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- Publication type:
- Article
DeepBipolar: Identifying genomic mutations for bipolar disorder via deep learning.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1217, doi. 10.1002/humu.23272
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- Publication type:
- Article
Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4.
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- Human Mutation, 2017, v. 38, n. 9, p. 1123, doi. 10.1002/humu.23222
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- Publication type:
- Article
Lessons from the CAGI-4 Hopkins clinical panel challenge.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1155, doi. 10.1002/humu.23225
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- Publication type:
- Article
Stratified polygenic risk prediction model with application to CAGI bipolar disorder sequencing data.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1235, doi. 10.1002/humu.23229
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- Publication type:
- Article
Issue Information.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1033, doi. 10.1002/humu.23100
- Publication type:
- Article
Reports from CAGI: The Critical Assessment of Genome Interpretation.
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- Human Mutation, 2017, v. 38, n. 9, p. 1039, doi. 10.1002/humu.23290
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- Publication type:
- Article
Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I.
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- Human Mutation, 2017, v. 38, n. 9, p. 1051, doi. 10.1002/humu.23293
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- Publication type:
- Article
Crohn disease risk prediction-Best practices and pitfalls with exome data.
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- Human Mutation, 2017, v. 38, n. 9, p. 1193, doi. 10.1002/humu.23177
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- Publication type:
- Article
Blind prediction of deleterious amino acid variations with SNPs&GO.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1064, doi. 10.1002/humu.23179
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- Publication type:
- Article
Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1201, doi. 10.1002/humu.23249
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- Publication type:
- Article
Cover Image, Volume 38, Issue 9.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. i, doi. 10.1002/humu.23314
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- Publication type:
- Article