Article

The performance of genetic-constraint metrics varies significantly across the human noncoding genome

2026-01-28

Abstract excerpt

A longstanding goal in human genetics is to prioritize noncoding loci that, when disrupted, lead to developmental disorders and other Mendelian traits. In pursuit of this goal, multiple metrics have been developed to distinguish neutrally evolving sequences from those subjected to purifying selection. These metrics are commonly evaluated genome-wide, e.g., by computing a precision-recall curve on windows tiling th...

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Literature Corpus work: 76b0b853-0c7a-5b78-8191-298eda8dbb9e
DOI: 10.64898/2026.01.28.701168

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