One year of publishing | Human Genome Variation

If you are unable to see the message below, click here to view.

July 2015 marks the first anniversary of Human Genome Variation, an online-only, open access journal publishing important findings about variation and variability in human genomes. In the past year Human Genome Variation has published over 40 papers including Articles, Review Articles, and Data Reports. Visit the website to explore all content available, or to learn more about the benefits of submitting your manuscript to the journal. Highlight research includes: Novel rare variations of the oxytocin receptor gene (OXTR) in autism spectrum disorder individuals [EDITORIAL SUMMARY] Autism spectrum disorder - Uncovering rare hormonal variants People harboring rare variants in the receptor gene for the hormone oxytocin may be at higher risk of autism spectrum disorder (ASD). Oxytocin is synthesized in the brain, and recent studies indicate it plays a vital role in social behaviors. For this reason, the dysfunction of the oxytocin receptor gene (OXTR) has been implicated in the development of ASD (…). READ MORE HLA-A*02:06 and PTGER3 polymorphism exert additive effects in cold medicine-related Stevens–Johnson syndrome with severe ocular complications [EDITORIAL SUMMARY]Acute inflammation - When cold medicine triggers disease Researchers have identified DNA variants predisposing patients to inflammatory reactions after taking cold medicine for flu-like symptoms. Mayumi Ueta at the Kyoto Prefectural University of Medicine and colleagues from Japan and Korea explored data from genome-wide association studies that assess the impact of single nucleotide polymorphisms (…). READ MORE A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy [EDITORIAL SUMMARY] Muscular disorders - Genetic screen reveals a rare disease Discovery of a mutation in a skeletal muscle gene has revealed the first case of Laing distal myopathy (LDM) ever reported in China. Tatsushi Toda at the Kobe University Graduate School of Medicine and coworkers in Japan and China were studying a muscular disorder that occurred in 14 of 52 members of one family, across 5 generations.(…) READ MORE Interaction of genetic markers associated with serum alkaline phosphatase levels in the Japanese population [EDITORIAL SUMMARY] Blood test - Gene interactions affect normal enzyme levels Common genetic variants interact to affect expression of an enzyme associated with liver disease, bile duct problems and bone disorders. Tsutomu Fujiwara and colleagues from Otsuka Pharmaceutical in Osaka, Japan, analyzed close to 2.4 million letters of DNA in a cohort of 2,994 healthy individuals of Japanese ancestry. (…) READ MORE Sign up to receive our free e-alerts to receive the latest research published in Human Genome Variation. HGV Database is a fully searchable database of genomic variation containing relevant data from Data Reports published in Human Genome Variation – find out more. About   Submit   Free e-alerts As a registered user of Nature Publishing Group's Web sites, our database indicates that you have opted-in to receive product information and special offers. If you no longer wish to receive these e-mails or to discontinue all e-mail services from Nature Publishing Group please update your online account. Modify My Account (Log in to be recognised as a Nature.com registrant). For further information on technical assistance | print subscriptions | other enquiries. Nature Publishing Group | Principal offices: London | New York and Tokyo, and offices in cities worldwide including Basingstoke | Barcelona | Boston | Buenos Aires | Cairo | Delhi | Heidelberg | Hong Kong | Madrid | Melbourne | Mexico City | Mumbai | Munich | Paris | San Francisco | Sao Paulo | Seoul and Washington DC. Macmillan Publishers Limited is a company incorporated in England & Wales under company number 785998 & whose registered office is located at Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. Nature Publishing Group | One New York Plaza, Suite 4500 | New York, NY 10004-1562 | USA © 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All rights reserved.