Category: GWAS

Genome-wide Association studies (GWAS) in the Quest to Understand the Causes of Birth Defects

a woman and doctor looking at a newborn with a Manhatten plot on the background

Our recent review and commentary found that relatively few genome-wide association studies (GWAS) on structural birth defects have been done, compared with the number of GWAS on other conditions. We reviewed the literature to identify GWAS on oral clefts, congenital heart defects (CHDs), biliary atresia, pyloric stenosis, hypospadias, craniosynostosis, and clubfoot. We did not find Read More >

Posted on by Ridgely Fisk Green, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention; Philip J. Lupo, Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine; Laura E. Mitchell, Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health; Mary M. Jenkins, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and PreventionTags ,

100,000 Studies: A Milestone for Human Genome Epidemiology (HuGE) and the HuGE Navigator

a HUGE odometer with 100000 on it

The HuGE published literature database now contains more than 100,000 citations, a milestone reached at the end of 2014. The Office of Public Health Genomics has compiled this database since 2001 via weekly systematic sweeps of PubMed performed by a single curator. For the first five years, a complex PubMed query was used to identify Read More >

Posted on by Marta Gwinn, Consultant, McKing Consulting Corp, Office of Public Health Genomics, Centers for Disease Control and PreventionTags , , ,

Public Health Impact of Genome-Wide Association Studies: Glass Half Full or Half Empty?

two half full glasses with chromosomes

Genome-wide association studies (or GWAS) are large-scale genetic investigations of human disease that measure simultaneously hundreds of thousands of genetic variants scattered throughout the human genome. GWAS burst onto the scientific scene in the mid 2000’s. Propelled by technological advances and falling prices, GWAS have revolutionized the search for genetic influences on common diseases of Read More >

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionTags , ,