Review of programs for assessing the pathogenicity of genetic variants

Currently, molecular genetic methods play an essential role in the diagnostic process for diverse pathologies. The introduction of mass parallel sequencing has significantly increased the amount of data on DNA variants in patients with various diseases, but the clinical significance of many of these...

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Bibliographic Details
Main Authors: D. S. Bug, A. N. Narkevich, N. V. Petukhova
Format: Article
Language:Russian
Published: Academician I.P. Pavlov First St. Petersburg State Medical University 2025-06-01
Series:Учёные записки Санкт-Петербургского государственного медицинского университета им. Акад. И.П. Павлова
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Online Access:https://www.sci-notes.ru/jour/article/view/1092
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