Human Genomics

Featured article: Considerations for the use of Cre recombinase for conditional gene deletion in the mouse lens

New Content Item Despite a number of different transgenes that can mediate DNA deletion in the developing lens, each has unique features that can make a given transgenic line more or less appropriate for particular studies. In their work, Lam et al. provide a review of transgenes that lead to the expression of Cre recombinase in the lens and a comparative analysis of currently available transgenic lines that can mediate DNA deletion in the lens placode. They suggest that abnormal eye development in Le-Cre transgenic mice stems from CRE toxicity

Content type: Primary research
| 16 April 2019

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Authors: Rossella Spataro, Maria Kousi, Sali M. K. Farhan, Jason R. Willer, Jay P. Ross, Patrick A. Dion, Guy A. Rouleau, Mark J. Daly, Benjamin M. Neale, Vincenzo La Bella and Nicholas Katsanis
Content type: Primary research
| 11 April 2019

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Authors: Yiming Qi, Jiexia Yang, Yaping Hou, Fangfang Guo, Haishan Peng, Dongmei Wang, Qianyi Du and Aihua Yin
Content type: Primary research
| 4 April 2019

Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases

Authors: Fasil Tekola-Ayele, Anthony Lee, Tsegaselassie Workalemahu and Katy Sánchez-Pozos
Content type: Primary research
| 20 March 2019

Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration

Authors: Madhu Sudhana Saddala, Anton Lennikov, Anthony Mukwaya, Lijuan Fan, Zhengmao Hu and Hu Huang
Content type: Primary research
| 12 March 2019

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

Authors: Hua Hu, Li Wang, Jiayan Wu, Peng Zhou, Jingli Fu, Jiuchen Sun, Weiyi Cai, Hailiang Liu and Ying Yang

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Content type: Book review
| 1 March 2005

Ernst Wit and John McClure John Wiley & Sons Ltd, Chichester, UK, 2004

Authors:
Content type: Primary research
| 7 January 2016

Intragraft transcriptional profiling of renal transplant patients with tubular dysfunction reveals mechanisms underlying graft injury and recovery

Authors: Hátylas Azevedo, Paulo Guilherme Renesto, Rogério Chinen, Erika Naka, Ana Cristina Carvalho de Matos, Marcos Antônio Cenedeze, Carlos Alberto Moreira-Filho, Niels Olsen Saraiva Câmara and Alvaro Pacheco-Silva
Content type: Software review
| 25 November 2014

Survival analysis tools in genomics research

Authors: Xintong Chen, Xiaochen Sun and Yujin Hoshida
Content type: Review
| 7 January 2015

Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities

Authors: Tesfaye B Mersha and Tilahun Abebe
Content type: Primary research
| 5 June 2013

Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection

Authors: Zoi Lanara, Efstathia Giannopoulou, Marta Fullen, Evangelos Kostantinopoulos, Jean-Christophe Nebel, Haralabos P Kalofonos, George P Patrinos and Cristiana Pavlidis

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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 2020

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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Village dog DNA reveals genetic changes caused by domestication

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(Re)constructing a fundamental cellular structure: The stacked Golgi apparatus

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Human Genomics

Featured article: Considerations for the use of Cre recombinase for conditional gene deletion in the mouse lens

Articles

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

The significance of trisomy 7 mosaicism in noninvasive prenatal screening

Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases

Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

Ernst Wit and John McClure John Wiley & Sons Ltd, Chichester, UK, 2004

Intragraft transcriptional profiling of renal transplant patients with tubular dysfunction reveals mechanisms underlying graft injury and recovery

Survival analysis tools in genomics research

Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities

Comparative study and meta-analysis of meta-analysis studies for the correlation of genomic markers with early cancer detection

HGNC updates

Previous content

Aims and scope

Call for Papers: Public Health Genomics

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

Latest Tweets

From the Blog

Village dog DNA reveals genetic changes caused by domestication

(Re)constructing a fundamental cellular structure: The stacked Golgi apparatus

Metabolomics and the Exposotype: Linking genes and environment to human health

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