August 2022

Posted By: HGG Advances HGGA: What motivated you to start working on this project?   SM: Working with the Vanderbilt University Undiagnosed Diseases Network (UDN) team during my PhD demonstrated the critical need for better approaches to variant interpretation in rare diseases. And even after a candidate gene and variant are identified, I observed that the... Read More

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG SC: What motivated you to start working on this project? HT: Finding faults within the DNA sequences and learning their associations with disease has always piqued my interest. Our lab studies the genomic basis of complex hematological syndromes and particularly the pathogenic effect of a genetic variant... Read More