The Pathogenicity of De Novo Rare Variants, Challenges and Opportunities

Eitemau Tebyg

• Rare variant association studies: considerations, challenges and opportunities
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• Making sense of missense: challenges and opportunities in variant pathogenicity prediction
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• De Novo Mutations and Rare Variants Occurring in NMDA Receptors
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• The Genetic Challenges and Opportunities in Advanced Heart Failure
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• Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
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