Improving estimates of negative selection in human genome using CAPS

Abstract excerpt

Despite ongoing efforts, variant interpretation in disease sequencing studies is often hindered by the lack of well-established ways of determining the potential pathogenicity of genetic variation, especially for understudied classes of single-nucleotide variants (SNVs). Population genetics methods offer an attractive solution to this problem by enabling the assessment of the effects of SNVs through their distribu...

Topics

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• Codon
• Evolution, Molecular
• Genetic Fitness
• Models, Genetic
• Open Reading Frames
• Protein Interaction Maps
• Selection, Genetic
• Statistics, Nonparametric

Identifiers and source

Literature Corpus work

7529f2a5-d009-598b-b558-b8764f54914e

DOI

10.1101/2024.01.23.576817