Geneticist
Brigham and Women’s Hospital
Dr. Jun Shen is a Clinical Molecular Geneticist certified by the American Board of Medical Genetics and Genomics at Brigham and Women's Hospital. She is a fellow member of the American College of Medical Genetics and Genomics.
Dr. Shen’s clinical and research interests are focused on identifying genetic etiologies of hereditary disorders which include molecular genetic diagnosis and new gene discovery. She is Co-PI of the Hear-’n-SEQ program, one of the Gabriella Miller Kids First cohort studies, in which genome sequencing is applied to identify genetic causes of structural birth defects. She formerly was the co-investigator of the SEQaBOO project to investigate how to apply genome sequencing to newborn screen to improve care. Dr. Shen also serves on the ClinGen Expert Panel for Hearing Loss.
Dr. Shen
received her PhD from Harvard University, did her postdoctoral training at
Harvard Medical School and Howard Hughes Medical Institute, and completed the
clinical molecular genetics fellowship through the Harvard Medical School
Genetics Training Program.
Geneticist
Brigham and Women’s Hospital
Dr. Jun Shen is a Clinical Molecular Geneticist certified by the American Board of Medical Genetics and Genomics at Brigham and Women's Hospital. She is a fellow member of the American College of Medical Genetics and Genomics.
Dr. Shen’s clinical and research interests are focused on identifying genetic etiologies of hereditary disorders which include molecular genetic diagnosis and new gene discovery. She is Co-PI of the Hear-’n-SEQ program, one of the Gabriella Miller Kids First cohort studies, in which genome sequencing is applied to identify genetic causes of structural birth defects. She formerly was the co-investigator of the SEQaBOO project to investigate how to apply genome sequencing to newborn screen to improve care. Dr. Shen also serves on the ClinGen Expert Panel for Hearing Loss.
Dr. Shen
received her PhD from Harvard University, did her postdoctoral training at
Harvard Medical School and Howard Hughes Medical Institute, and completed the
clinical molecular genetics fellowship through the Harvard Medical School
Genetics Training Program.
Journal article
Differentiating follicular thyroid adenoma (FTA) from carcinoma (FTC) remains challenging due to similar histological features separate from invasion. This study developed and validated DNA- and/or protein-based classifiers. A total of 2443 thyroid samples from 1568 patients were obtained from 24 centers in China and Singapore. Next-generation sequencing of a 66-gene panel revealed 41 (62.1%) detectable genes, while 25 were not, showing similar alteration patterns with differing mutation...
Journal article
CONCLUSION: Genes classified as Moderate and Strong were likely to build evidence and change their classification over time, whereas Limited were unlikely to gain evidence. These findings highlight the critical role of recuration in ensuring that genetic tests and research studies incorporate the most recent evidence into their efforts.