Article
The Human Intolerome: A curated database to prioritize genomic variants in stillbirth, pregnancy loss, and neonatal death.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2026
Yatsenko Svetlana A, Nagasuri Amrita, Soman Vishal, Garakani Aryo, Aminbeidokhti Mona, Chandran Uma, Aarabi Mahmoud, Oskotsky Tomiko, Bukhari Syed Hassan, Hypes Catherine, Gu Zhiping, Monteiro Ruth, Smith Sammi, Walters Bryan, Snyder Michael P, Tise Christina G, Bernstein Jonathan A, Shaw Gary M, Stevenson David K, Lathi Ruth B, Sirota Marina, Rajkovic Aleksandar
Abstract excerpt
PURPOSE: The application of next-generation sequencing in prenatal and neonatal genomic medicine provides definite diagnosis and affects clinical decision making and reproductive planning. Despite recent advances, interpretation of variants identified by genome/exome sequencing in cases lacking obvious phenotypic abnormalities (stillbirth, miscarriage, and neonatal death) remains challenging. METHODS: To improve...
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