Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

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CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

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2017 nî lūn-bûn

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Novel findings with reassessme ...... nterpretation of genomic data.

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Novel findings with reassessme ...... nterpretation of genomic data.

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Novel findings with reassessme ...... nterpretation of genomic data.

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Novel findings with reassessme ...... nterpretation of genomic data.

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Novel findings with reassessme ...... nterpretation of genomic data.

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Novel findings with reassessme ...... nterpretation of genomic data.

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P1476

Novel findings with reassessme ...... nterpretation of genomic data.

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Addie Nesbitt

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Alisha Wilkens

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Avni Santani

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Bo Zhang

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Chao Wu

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Dimitri Monos

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Elizabeth Bhoj

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Elizabeth DeChene

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Elizabeth Denenberg

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Emma Bedoukian

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CORRIGENDUM: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

P2860

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

Assessing the Costs and Cost-Effectiveness of Genomic Sequencing

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

ClinVar: public archive of interpretations of clinically relevant variants

Guidelines for investigating causality of sequence variants in human disease

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.

P2888

gim.2017.153

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scholarly article

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10.1038/GIM.2017.153

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English

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Kristin K McDonald

Elaine Zackai

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2017-10-12T00:00:00Z

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1092188186

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29389922

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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

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P921

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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.

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P2507

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P1476

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