Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

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Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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2017年學術文章

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Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

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Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

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Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

@en

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

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Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

@en

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

@nl

P1476

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

@en

P2093

Care4Rare Canada Consortium

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David A Dyment

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Kristin D Kernohan

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Najmeh Alirezaie

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Peter N Robinson

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Taila Hartley

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P2860

A method and server for predicting damaging missense mutations

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

The Human Phenotype Ontology in 2017

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

A general framework for estimating the relative pathogenicity of human genetic variants

Next-generation diagnostics and disease-gene discovery with the Exomiser

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

P31

scholarly article

P356

10.1002/HUMU.23374

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P50

Kym M Boycott

P577

2017-11-30T00:00:00Z

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P698

29193559

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