“inside hgg advances” Search Results

Alyson Barnes earned her PhD at Duke University and is now a scientist at Variant Bio.

Inside HGG Advances: A Chat with Alyson Barnes

Posted By: HGG Advances HGGA: What motivated you to start working on this project?   AB: Clinical manifestations among C. trachomatis patients are highly variable. For example, up to 80% of C. trachomatis genital infections are asymptomatic and if left untreated, can lead to severe clinical outcomes such as pelvic inflammatory disease, ectopic pregnancies, and infertility.... Read More

Nelson Ugwu earned his MD from the Yale School of Medicine and is now an Internal Medicine Resident at the Beth Israel Deaconess Medical Center.

Inside HGG Advances: A Chat with Nelson Ugwu

Posted By: HGG Advances HGGA: What motivated you to start working on this project?   NU: Despite being first described over 100 years ago, mutations underlying hepatic hemangiomas (HHs) had not been identified. Mutations associated with cutaneous venous malformations (CVMs) have been found, but a significant proportion still have no genetic explanation. We also found it... Read More

Rachel Youjin Oh, MD, is a fourth year resident in the Medical Genetics and Genomics program at the University of Toronto and the Hospital for Sick Children.

Inside HGG Advances: A Chat with Rachel Oh

Posted By: HGG Advances HGGA: What motivated you to start working on this project? RO: Accurate variant interpretation is essential to both genome diagnostics and screening in medical genetics. Canonical splice site variants (CSSVs) are considered “null variants” (in the same category as nonsense, frameshift, initiation codon, single or multi-exon deletion variants) in a gene... Read More

Diptavo Dutta, PhD is an investigator in the Division of Cancer Epidemiology & Genetics at the National Cancer Institute.

Inside HGG Advances: A Chat with Diptavo Dutta

Posted By: HGG Advances HGGA: What motivated you to start working on this project? DD: The scientific motivation of this work was to investigate, for diseases, whether there are tissues beyond the obvious candidates where genes might manifest associations, and if so, can we interpret such findings from an etiologic viewpoint. The statistical method is... Read More

Inside HGG Advances: A Chat with Tianyu Zhang

Posted By: HGG Advances HGGA: What motivated you to start working on this project? TZ: As a researcher with biostatistics training, I feel it is crucial to get my hands on real-world data to validate the efficiency of many methods that people develop on paper or whiteboards. My advisor kindly offered me this opportunity! HGGA:... Read More

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