Article
Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.
Cell genomics - 8 Oct 2025
Dishuck Philip C, Munson Katherine M, Lewis Alexandra P, Dougherty Max L, Underwood Jason G, Harvey William T, Hsieh PingHsun, Pastinen Tomi, Eichler Evan E
Abstract excerpt
The NPIP gene family is among the most positively selected gene families in humans/apes and drives independent duplication in primate lineages. These duplications promote genetic instability, leading to recurrent disease-associated microduplication and microdeletion syndromes. Despite its importance, little is known about its function or variation in humans, as short-read sequencing cannot distinguish...
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