The Human Pangenome Reference Consortium’s (HPRC) Release 2 (HPRC2) is presented, an openly available, second phase pangenome that is an approximately fivefold expansion in genome number over HPRC Release 1 (HPRC1) and measurable improvement in genome completeness, contiguity, and accuracy.
Julian K. Lucas, Prajna Hebbar, Wen-Wei Liao et al.· bioRxiv· 6 citations
The first comprehensive human mechanistic model of PPP1R9A haploinsufficiency using an isogenic CRISPR/Cas9-engineered iPSC system differentiated into cortical neurons is established, providing a human-specific mechanistic framework linking reduced Neurabin I dosage to neurodevelopmental and psychiatric disease risk.
The mutational spectrum of EPS8 is expanded and the independent segregation of two autosomal recessive disorders within the complex consanguineous family is highlighted, resulting in distinct and blended phenotypes.
Bassam Jamalalail, Ahmed A. Khalifa, Bipin Balan et al.· bioRxiv· 0 citations
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