Transcriptomic signatures of rare variant impacts across sex and the X chromosome

Summary: The human X chromosome contains hundreds of genes and has well-established impacts on sex differences and traits. However, the X chromosome is often excluded from many genetic analyses, limiting broader understanding of variant effects. In particular, the functional impact of rare variants...

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Principais autores:	Rachel A. Ungar, Taibo Li, Nikolai G. Vetr, Nicole Ersaro, Alexis Battle, Stephen B. Montgomery
Format:	Artigo
Jezik:	Inglês
Izdano:	Elsevier 2025-07-01
Serija:	HGG Advances
Teme:	rare variant X chromosome machine learning sex differences
Online dostop:	http://www.sciencedirect.com/science/article/pii/S2666247725000661
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