CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

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Reports from CAGI: The Critical Assessment of Genome Interpretation.Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

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CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

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2017 nî lūn-bûn

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CAGI4 SickKids clinical genome ...... entifying pathogenic variants.

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CAGI4 SickKids clinical genome ...... entifying pathogenic variants.

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CAGI4 SickKids clinical genome ...... entifying pathogenic variants.

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CAGI4 SickKids clinical genome ...... entifying pathogenic variants.

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Kunal Kundu

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Lipika R Pal

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From mouse to human: evolutionary genomics analysis of human orthologs of essential genes

Medical implications of technical accuracy in genome sequencing

Improved exome prioritization of disease genes through cross-species phenotype comparison

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

De novo mutations in epileptic encephalopathies

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

A global reference for human genetic variation

Analysis of protein-coding genetic variation in 60,706 humans

A method and server for predicting damaging missense mutations

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

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1169-1181

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scholarly article

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10.1002/HUMU.23257

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John Moult

Yizhou Yin

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2017-05-16T00:00:00Z

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28512736

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CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

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P2860

P2860

CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

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P1476

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P2860

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P577

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