Found: 14
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Nijmegen Breakage Syndrome Detected by Newborn Screening for T Cell Receptor Excision Circles (TRECs).
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 2, p. 227, doi. 10.1007/s10875-015-0136-6
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- Article
MecCog: a knowledge representation framework for genetic disease mechanism.
- Published in:
- Bioinformatics, 2021, v. 37, n. 22, p. 4180, doi. 10.1093/bioinformatics/btab432
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- Article
Harnessing formal concepts of biological mechanism to analyze human disease.
- Published in:
- PLoS Computational Biology, 2018, v. 14, n. 12, p. 1, doi. 10.1371/journal.pcbi.1006540
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- Article
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes challenge.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 347, doi. 10.1002/humu.23933
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- Article
Assessment of predicted enzymatic activity of α‐N‐acetylglucosaminidase variants of unknown significance for CAGI 2016.
- Published in:
- Human Mutation, 2019, v. 40, n. 9, p. 1519, doi. 10.1002/humu.23875
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- Article
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases.
- Published in:
- Human Mutation, 2019, v. 40, n. 9, p. 1373, doi. 10.1002/humu.23874
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- Article
Assessment of methods for predicting the effects of PTEN and TPMT protein variants.
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- Human Mutation, 2019, v. 40, n. 9, p. 1495, doi. 10.1002/humu.23838
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- Article
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge.
- Published in:
- Human Mutation, 2019, v. 40, n. 9, p. 1330, doi. 10.1002/humu.23823
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- 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.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1109, doi. 10.1002/humu.23267
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- 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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- Article
CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease.
- Published in:
- Human Mutation, 2017, v. 38, n. 9, p. 1225, doi. 10.1002/humu.23256
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- 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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- 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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- 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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- Article