Systematic analysis of genetic variants with conflicting interpretations of pathogenicity

Lazareva T.1*, Barbitoff Y.1

1 FSBSI “The Research Institute of Obstetrics, Gynecology and Reproductology named after D.O.Ott”

* tatiana.ev.lazareva@gmail.com

 

BGRS_SB24_LazarevaTE
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Brinique Hines
Brinique Hines
1 month ago

I just dove into your analysis on genetic variants with conflicting interpretations—fascinating stuff! I’m curious about the criteria you used for determining pathogenicity versus benign classifications. Are there specific examples of variants that stood out to you during your research? It’s so intriguing how these interpretations can shift based on new evidence. Also, do you think advancements in technologies like snow rider CRISPR might impact future classification efforts? Thanks for sharing such valuable insights! I’ll definitely be exploring more from BGRSSB-2024 and perhaps even checking related studies through Google. Keep up the great work!