Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Leslie G. Biesecker"'
Autor:
Emma H. Wilcox, Heidi L. Rehm, Ahmad N. Abou Tayoun, Mahdi Sarmady, Leslie G. Biesecker, Matthew Wright, Bryan Wulf
BackgroundIn silicoevidence is important to consider when interpreting genetic variants. According to the ACMG/AMP,in silicoevidence is applied at the supporting strength level using the PP3 and BP4 criteria, for pathogenic and benign evidence, respe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cfdbb54ebf824e3af9ab64ceaac2848
https://doi.org/10.1101/2021.08.09.455612
https://doi.org/10.1101/2021.08.09.455612
Autor:
Robert T. Dirksen, Phil M. Hopkins, Louis A. Saddic, Henry Rosenberg, Stephen G. Gonsalves, Nyamkhishig Sambuughin, Sheila Riazi, Leslie G. Biesecker, Jennifer J. Johnston, Richa Saxena, James L. Weber, Kathryn M. Stowell, Thierry Girard
PurposePrevention of malignant hyperthermia (MH) requires an understanding of RYR1 variant pathogenicity to assess the risk of exposure to triggering agents. Personalized medicine, especially secondary findings and eventually genomic screening, will
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5450551c1290c5106fd868f66907fbe
https://doi.org/10.1101/2020.11.29.402768
https://doi.org/10.1101/2020.11.29.402768
Autor:
Ahmad N. Abou Tayoun, Leslie G. Biesecker, Tina Pesaran, Marina T. DiStefano, Steven M. Harrison, Andrea M. Oza, Heidi L. Rehm
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria. This guideline includes a pathogenic criterion (PVS1) for predicted loss of function v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::547fc6e57cdd999dee38ea84a23e1d21