Realizing the benefits of human genetics and genomics research for people everywhere.
Nascent Transcript Author: Nicole Ferraro Direct-to-consumer (DTC) genetic testing has allowed millions to directly interact with their genetic data and test results. This presents largely uncharted avenues in which our work as geneticists interacts with the public. A recent example involved a genome-wide association study1 that produced a polygenic risk score explaining <1% of variance... Read More
Nascent Transcript Writer: Jeff Calhoun Due to the reduced cost of next-generation sequencing and the demonstrated utility of genetic diagnoses, more and more individuals are having their genes, exomes, and even genomes sequenced in a clinical setting. This testing ranges widely from gene panels to identify cancer subtypes, to array Comparative Genomic Hybridization to identify... Read More
Continued funding and public support are essential for driving progress in genetics and genomics research. ASHG is committed to supporting members and the greater community in advocating for research to policymakers. Related: ASHG Comments: Advanced Research Projects Agency for Health (ARPA-H) Listening Session (August 2021) AJHG Perspective: Advocating for Genetics and Genomics Research to Policymakers... Read More
Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Mark McCarthy (@markmccarthyoxf) to discuss his paper “A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models... Read More