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Human Genomics

Featured Article: Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

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We developed a community data-driven approach to creating a pan-ethnic carrier screening panel that meets the recent American College of Medical Genetics and Genomics (ACMG) recommendations. Using machine learning and data of over 3,000 Israeli individuals from the Franklin community, we identified several tier-2 and tier-3 variants that were not included in existing carrier screening panels for Ashkenazi Jewish or Muslim Arab ancestries, as well as additional variants that are potentially pathogenic. This approach facilitates generating inclusive and equitable ethnically based carrier screening panels and identifies new pathogenic founder variants missing from currently available panels, based on real-world data and evidence.

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  3. Authors: A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson, R. Polimanti, J. Gelernter, X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen…

    Content type: Meeting Abstracts

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2023

Multi-omics approaches to unravel gene-environmental interactions in noncommunicable diseases

Edited by: Tesfaye Mersha and Daniel Enquobahrie

CAGI 6: Critical Assessment of Genome Interpretation, Sixth Edition

Edited by: Soren Brunak, Hannah Carter, John Moult

Personalized Nutrition and Healthy Living from a Genomic Perspective

Edited by: Anagnostis Argiriou and Giuseppe Novelli

Mapping the urban wastewater genome towards the understanding of human infectious disease

Edited by: Despo Fatta-Kassinos, Bernd M. Gawlik and Warish Ahmed


2022

Exposome x Genome

Edited by: Xiaoming Shi and Nikolaos S. Thomaidis


2020 

Genetically Manipulated Animal Models for Human Disease

Edited by: Ying Chen, Won Yeong Kang, and Hassane Mchaourab

Genomics of COVID-19: Molecular Mechanisms Going from Susceptibility to Severity of the Disease

Edited by: Giuseppe Novelli and Juergen Reichardt

Artificial Intelligence and Genomics

Edited by: Kirill A. Veselkov, Takashi Gojobori, and David van Dijk


2018

Public Health Genomics

Edited by: George Patronis and Hongyu Zhao


2017 

Ethics, Law, and Society in Human Genomics

Edited by: Ruth Chadwick


2015

Translational Genomics

Edited by: Nick M. Makridakis

Exome Sequencing

Edited by: George Patrinos and Chee Seng Ku

HGNC updates

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

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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: Multi-omics approaches to unravel gene-environmental interactions in noncommunicable diseases

Guest Editors:
Tesfaye B. Mersha, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, USA
Daniel Enquobahrie, University of Washington, USA

The purpose of this Collection is to identify and describe developments, challenges and opportunities related to the integration of environmental exposure data with -omics data in population studies.

Call for Papers: Personalized Nutrition and Healthy Living from a Genomic Perspective

Guest Editors:
Anagnostis Argiriou, Institute of Applied Biosciences, Centre for Research and Technology Hellas
Giuseppe Novelli, Department of Biomedicine and Prevention, Tor Vergata University of Rome

Unhealthy diet has been attributed as an important risk factor for the development and progression of chronic non-communicable diseases such as obesity, diabetes and cancer. Personalized nutrition aims to enhance human health by tailoring dietary recommendations to individuals using lifestyle, genetic, phenotypic, medical, nutritional and other information.

Call for Papers: Mapping the urban wastewater genome towards the understanding of human infectious disease

Guest Editors:
Despo Fatta-Kassinos, Department of Civil and Environmental Engineering, Nireas-International Water Research Center, University of Cyprus
Bernd M. Gawlik, European Commission, Joint Research Centre, Directorate D - Sustainable Resources
Warish Ahmed, CSIRO Environment, Commonwealth Scientific and Industrial Research Organisation

Wastewater surveillance falls within the broad category of environmental surveillance. It can assess the presence or quantity of a chemical or biological signal in a pooled sample of sewage, taken for example from the sewer network or a wastewater treatment plant, to obtain information on various aspects of public health and human behavior. We seek to create a collection of recent studies addressing various key questions in relation to mapping the wastewater genome towards the understanding of human infections disease.

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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.

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Human Genomics

ISSN: 1479-7364