Postdoctoral Fellow
BIOGRAPHY
JAN 13, 2022 8:40 AM PST
Enlightening the Dark Matter of the Genome: Optical Genome Mapping Identifies a Germline Retrotransposon Insertion in SMARCB1 in Two Siblings with Atypical Teratoid Rhabdoid Tumors
Presented at:
Bionano Genomics 2022 Symposium
Speaker
Abstract
In a subset of pediatric cancers, the causative germline cancer predisposition mutations remain unidentified because they are hidden in the dark matter of the genome. As consequence, genetic counseling and predictive testing in those families are seriously hampered.
You May Also Like
DEC 10, 2024 | 9:00 AM
To-date, proteomic analysis has been severely limited in scale and resolution. Analyzing protein samples using an intact, single-molecule approach holds th...
OCT 02, 2024 | 7:30 AM
De novo gene synthesis and protein expression are established technologies that can give access to nearly any target DNA or protein sequence, allowing for engineering of biologics. In this p...
JUN 19, 2024 | 8:30 AM
Join us for an illuminating webinar as we delve into the realm of open automation with Inpeco, the global leader in Total Laboratory Automation. Discover how their groundbreaking s...
Loading Comments...