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Oct 2026

Caregiver's perspectives toward genome sequencing in children with neurodevelopmental disorders: Integrating genomic information into pediatric care.

OBJECTIVES The increasing integration of clinical genome sequencing (GS) into pediatric care has the potential to improve diagnostic understanding for children with neurodevelopmental disorders (NDDs), yet questions remain regarding how families interpret and experience genomic information. This study examined caregive...

Gabriella E. George, Rebecca Schecter, Joane Padilla et al. · 0 citations
Open access Jul 2026

HPRC2: A human pangenome reference with near-complete coverage of common genetic variation

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. · 6 citations

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