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Featured Article: Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

New Content ItemWe compared the coding sequence coverage and sensitivity of SNV detection of the Twist V1 exome capture kit with other commonly used exome kits, as well as with short-read (SR) and long-read (LR) whole-genome sequencing (WGS) approaches. Our results show that the Twist exome capture kit has improved coverage and uniformity across coding regions in comparison to other exome capture kits; almost as good as SR-WGS. Even with decreased average coverage of 70×, there is only minimal loss in sensitivity for SNV and CNV detection. We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower average sequence coverage.


  1. 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…


Pharmacogenomics Beyond Single Common Genetic Variants

Edited by: Volker M. Lauschke

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


Exposome x Genome

Edited by: Xiaoming Shi and Nikolaos S. Thomaidis


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


Public Health Genomics

Edited by: George Patronis and Hongyu Zhao


Ethics, Law, and Society in Human Genomics

Edited by: Ruth Chadwick


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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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: Pharmacogenomics Beyond Single Common Genetic Variants

Guest Editors:
Volker M. Lauschke: Karolinska Institutet & Bosch Institute of Clinical Pharmacology, Sweden

In this Collection, we invite original research articles, case reports, meta-analyses, and reviews that focus on associations between genetic variability with drug metabolism, response or toxicity. We particularly welcome reports that identify combinatorial variant effects in cis or trans, epigenetic variations, regulation of gene expression by non-coding RNAs as well as polygenic models for drug response and safety predictions.

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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