The HGG Advances Award for Outstanding Early Career Publication recognizes research excellence from ASHG members who have recently begun their independent research careers. Philip Boone, a clinical geneticist, former postdoc, and now an Instructor in the lab, was awarded this for his paper on SMC3 mutations in HGG Advances at the 2024 ASHG conference in [...]
The Broad Institute's All of Us (AoU) Genome Center and All of Us Data and Research Center have led multiple aspects of variant discovery and data releases for this national biobank initiative. In June 2024, the laboratory of institute member and All of Us Co-I Mike Talkowski, including Emma Pierce-Hoffman, Mark Walker, Harrison Brand, Chris Whelan, [...]
The current standard of care for fetal genetic testing requires an invasive medical procedure such as amniocentesis to survey individual DNA changes in the fetal genome. Here, the Talkowski laboratory has developed a new technology that enables pregnant persons to screen the protein-coding sequence of all genes in the fetal genome from a simple blood [...]
In a recent paper published in the American Journal of Human Genetics, postdoctoral research fellow Chelsea Lowther and graduate student Elise Valkanas co-led a large-scale study to systematically evaluate genome sequencing as a single test to displace the sequential application of karyotype, chromosomal microarray, and exome sequencing for the diagnostic assessment of autism spectrum disorder [...]
Chris Whelan shared our work on non-invasive prenatal sequencing using cell-free DNA at the Advances in Genome Biology and Technology (AGBT) meeting in Hollywood, Florida in a flash talk and poster presentation. The conference brings together leading users and developers of the latest technologies in genomics, from both academia and industry. He had some great [...]
Introducing Dr. Ryan Collins! Ryan recently received his PhD from Harvard’s Bioinformatics and Integrative Genomics program. His thesis, The Landscape and Consequences of Structural Variation in the Human Genome, represents only a sliver of the work Ryan has accomplished in his nine years as a member of the lab, first joining us as a post-bac and [...]
We are delighted to announce that Michael E. Talkowski, PhD, has been selected to become the next Director of the Center for Genomic Medicine (CGM) at MGH beginning on September 1, 2020. Dr. Talkowski will be the third CGM Director, following two world-class scientists, Dr. Sekar Kathiresan and founding director Dr. James Gusella. With his [...]
The Genome Aggregation Database (gnomAD) has published a collection of research articles and related content in Nature that describe and analyze human genetic variation. The Talkowski lab contributed to the flagship paper in addition to publishing our own contributing paper.
X-linked Dystonia-Parkinsonism (XDP), is a rare Mendelian disorder predominantly observed on Panay island in the Philippines. The clinical phenotype most frequently combines features of dystonia and parkinsonism in a characteristic temporal progression. A region of the X-chromosome was linked to the disorder, yet the pathogenic mechanism has remained elusive. We demonstrate that this disorder is [...]
Chelsea joined the Talkowski laboratory in September 2017 as a postdoctoral fellow, after completing her PhD in Medical Science with Anne Bassett at the University of Toronto in Canada. In the Talkowski laboratory Chelsea will be working on the Developmental Genome Anatomy Project (DGAP) using whole-genome sequencing and computational tools to help identify new genetic [...]
