Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory.

Linyan Meng,Ruben Attali,Tomer Talmy, Yakir Regev, Niv Mizrahi,Pola Smirin-Yosef,Liesbeth Vossaert,Christian Taborda,Michael Santana,Ido Machol,Rui Xiao,Hongzheng Dai,Christine Eng,Fan Xia,Shay Tzur

Genetics in medicine : official journal of the American College of Medical Genetics（2023）

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摘要

The automated model for case analysis assists clinical genetic laboratories in prioritizing candidate variants effectively. The use of such technology may facilitate the interpretation of genomic data for a large number of patients in the era of precision medicine.

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Clinical genomics,Machine learning methods

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