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Cover Image, Volume 37, Issue 12.
- Published in:
- Human Mutation, 2016, v. 37, n. 12, p. i, doi. 10.1002/humu.23142
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- Publication type:
- Article
Issue Information.
- Published in:
- Human Mutation, 2016, v. 37, n. 12, p. 1243, doi. 10.1002/humu.22896
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- Article
High-Throughput Sequencing in the Context of Human Genetic Diseases: Now and Tomorrow.
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- Human Mutation, 2016, v. 37, n. 12, p. 1247, doi. 10.1002/humu.23134
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Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies.
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- Human Mutation, 2016, v. 37, n. 12, p. 1248, doi. 10.1002/humu.23122
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- Article
Am I My Family's Keeper? Disclosure Dilemmas in Next-Generation Sequencing.
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- Human Mutation, 2016, v. 37, n. 12, p. 1257, doi. 10.1002/humu.23118
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- Article
From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing.
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- Human Mutation, 2016, v. 37, n. 12, p. 1263, doi. 10.1002/humu.23114
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- Article
How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.
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- Human Mutation, 2016, v. 37, n. 12, p. 1272, doi. 10.1002/humu.23110
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- Article
Noncoding RNA: Current Deep Sequencing Data Analysis Approaches and Challenges.
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- Human Mutation, 2016, v. 37, n. 12, p. 1283, doi. 10.1002/humu.23066
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- Article
Actionable Genes, Core Databases, and Locus-Specific Databases.
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- Human Mutation, 2016, v. 37, n. 12, p. 1299, doi. 10.1002/humu.23112
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- Article
WES/WGS Reporting of Mutations from Cardiovascular 'Actionable' Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
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- Human Mutation, 2016, v. 37, n. 12, p. 1308, doi. 10.1002/humu.23119
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- Article
BRCA Share: A Collection of Clinical BRCA Gene Variants.
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- Human Mutation, 2016, v. 37, n. 12, p. 1318, doi. 10.1002/humu.23113
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- Article
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
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- Human Mutation, 2016, v. 37, n. 12, p. 1329, doi. 10.1002/humu.23038
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- Article
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
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- Human Mutation, 2016, v. 37, n. 12, p. 1340, doi. 10.1002/humu.23063
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- Article
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
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- Human Mutation, 2016, v. 37, n. 12, p. 1354, doi. 10.1002/humu.23120
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- Article
Fourth Generation of Next-Generation Sequencing Technologies: Promise and Consequences.
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- Human Mutation, 2016, v. 37, n. 12, p. 1363, doi. 10.1002/humu.23051
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- Article