The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

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The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants

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im November 2018 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в листопаді 2018

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The value of genomic variant C ...... the addition of novel variants

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The value of genomic variant C ...... the addition of novel variants

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The value of genomic variant C ...... the addition of novel variants

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The value of genomic variant C ...... the addition of novel variants

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The value of genomic variant C ...... the addition of novel variants

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The value of genomic variant C ...... the addition of novel variants

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The value of genomic variant C ...... the addition of novel variants

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Andrea Seeley

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Brenda Finucane

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Christa Lese Martin

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Devin Shuman

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Emily Palen

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Scott M Myers

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Thomas D Challman

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P2860

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

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

The Human Phenotype Ontology in 2017

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

ClinVar: public archive of interpretations of clinically relevant variants

PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility

ClinGen--the Clinical Genome Resource

Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics.

The human phenotype ontology.

Refining analyses of copy number variation identifies specific genes associated with developmental delay

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1660-1667

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scholarly article

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10.1002/HUMU.23607

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English

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Karen E Wain

Juliann M Savatt

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2018-11-01T00:00:00Z

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30311381

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6190575

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