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Featured article: Population and breast cancer patients’ analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population

Interpretation of variants of unknown significance in genetic tests is complicated in ethnically diverse populations, given the lack of information regarding the common spectrum of genetic variation in clinically relevant genes. In this study, Fernández-Lopez et al. analyzed Mexican population data from a sample of 3985 outbred individuals and an additional 66 hereditary breast cancer patients to better define the spectrum of common genomic variation of the BRCA1 and BRCA2 genes. Their analyses identified the most common genetic variants in these clinically relevant genes as well as the presence and frequency of specific pathogenic mutations present in the Mexican population.


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HGNC updates

Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.

Previous content

Human Genomics launched with BioMed Central in July 2012, transferring from its previous publisher Henry Stewart Publications. All back content is now available in the archive.

Aims and scope

Human Genomics is a peer-reviewed, open access journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.

Call for Papers: Public Health Genomics

Guest Editors: George P Patrinos, University of Patras, Greece; Hongyu Zhao, Yale University, USA

Papers are invited which address current issues in human public health genomics, such as genomic surveillance of disease, genetic risk prediction, individual genome interpretation, gene-environment interactions, genetic diversity of vector-borne disease, vaccination and vaccine-based approaches against pathogens data sharing, economic evaluation in genomic medicine, and the role of big data and artificial intelligence on the development of translational tools and services and the overall future of public health.

Submission Deadline: March 2019

HUGO 2019 Meeting: April 24-26 in Seoul, South Korea

New Content Item

This year's theme is "Towards Implementing Genomic Medicine". Read more here

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