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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Not available
S-EPMC12328722
|
biostudies-literature
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11th German Conference on Chemoinformatics (GCC 2015) : Fulda, Germany. 8-10 November 2015.
Not available
S-EPMC4896257
|
biostudies-literature
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An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser.
Not available
S-EPMC12539062
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biostudies-literature
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Genomic investigations of unexplained acute hepatitis in children.
Not available
S-EPMC10170458
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biostudies-literature
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The power of genetic diversity in genome-wide association studies of lipids.
Not available
S-EPMC8730582
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biostudies-literature
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Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.
Not available
S-EPMC9793579
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biostudies-literature
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A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.
Not available
S-EPMC9388392
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biostudies-literature
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Adeno-associated virus 2 infection in children with non-A-E hepatitis.
Not available
S-EPMC7617659
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biostudies-literature
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Abdominal infections in the intensive care unit: characteristics, treatment and determinants of outcome.
Not available
S-EPMC4122779
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biostudies-literature
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Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: the COVIDSurg mortality score.
Not available
S-EPMC8344569
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biostudies-literature
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