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Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.
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- Journal of the American Medical Informatics Association, 2024, v. 31, n. 2, p. 536, doi. 10.1093/jamia/ocad211
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- Article
Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1232, doi. 10.1038/ejhg.2013.20
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- Article
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
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- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 476, doi. 10.1038/ejhg.2011.222
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- Article
Developing genomic knowledge bases and databases to support clinical management: current perspectives.
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- Pharmacogenomics & Personalized Medicine, 2014, v. 7, p. 275, doi. 10.2147/PGPM.S49904
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- Article
Data-driven method to enhance craniofacial and oral phenotype vocabularies.
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- Journal of the American Dental Association (JADA), 2019, v. 150, n. 11, p. 933, doi. 10.1016/j.adaj.2019.05.029
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- Article
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 614, doi. 10.1002/humu.22032
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- Article
Detecting false-positive signals in exome sequencing.
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- Human Mutation, 2012, v. 33, n. 4, p. 609, doi. 10.1002/humu.22033
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- Article
Analysis of DNA sequence variants detected by high-throughput sequencing.
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- Human Mutation, 2012, v. 33, n. 4, p. 599, doi. 10.1002/humu.22035
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- Article
VAR-MD: A tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.
- Published in:
- Human Mutation, 2012, v. 33, n. 4, p. 593, doi. 10.1002/humu.22034
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- Article
Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes.
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- Diabetes Care, 2024, v. 47, n. 6, p. 1042, doi. 10.2337/dc23-2274
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- Article