Article

Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

2024-03-07

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To investigate the number of rare missense variants observed in human genome sequences by ACMG/AMP PP3/BP4 evidence strength, following the calibrated PP3/BP4 computational recommendations. <h4>Methods</h4> Missense variants from the genome sequences of 300 probands from the Rare Genomes Project with suspected rare disease were analyzed using computational prediction tools able t...

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Literature Corpus work: 02b6db86-e7bc-545c-9f8a-980fc6611ef1
DOI: 10.1101/2024.03.05.24303807

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