Article

MENDELSEEK: An algorithm that predicts Mendelian Genes and elucidates what makes them special

2025-04-10

Abstract excerpt

Although individual Mendelian diseases—those caused by a single gene—are rare, their collective disease burden is substantial. Identifying the causal gene for each condition is essential for accurate diagnosis and effective treatment. Yet, despite decades of research, the genetic basis of more than half of all known Mendelian diseases remains unresolved. To address this gap, we introduce MENDELSEEK , a machine le...

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Literature Corpus work: ea9cf88c-9cb0-51e5-94c1-2585f7544244
DOI: 10.1101/2025.04.06.647432

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