Deep Phenotyping for Precision Medicine: Human Mutation: Vol 33, No 5

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Human Mutation

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Special Issue:Deep Phenotyping for Precision Medicine

Deep phenotyping for precision medicine ^†

Standard terminology for phenotypic variations: The Elements of Morphology project, its current progress, and future directions ^†

Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience ^†

Knowledge engineering for health: A new discipline required to bridge the “ICT gap” between research and healthcare ^†

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users ^†

Back to the future: From genome to metabolome ^†

Integration of global resources for human genetic variation and disease ^†

Large-scale objective phenotyping of 3D facial morphology ^†

Mouse genetic and phenotypic resources for human genetics ^†

ApiNATOMY: A novel toolkit for visualizing multiscale anatomy schematics with phenotype-related information ^†

Using PhenX measures to identify opportunities for cross-study analysis ^†

MouseFinder: Candidate disease genes from mouse phenotype data ^†

Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information ^†

Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders ^†

Next-generation sequencing demands next-generation phenotyping ^†

The androgen receptor gene mutations database: 2012 update ^†

An AT-rich region in the APC gene may cause misinterpretation of familial adenomatous polyposis molecular screening ^†

Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer

This article corrects the following:

Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer

A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

This article corrects the following:

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

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Human Mutation

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Special Issue:Deep Phenotyping for Precision Medicine

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Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer

Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer

A review of a multifactorial probability based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)

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