Laura Scheinfeldt

The paper introduces a new iPSC resource with long-read whole-genome sequencing data for in vitro modeling and genomic analysis.

The paper surveys community and researcher perspectives on creating iPSCs from HapMap and 1000 Genomes Project biospecimens, finding broad support but also concerns.

The paper presents T2T reference genomes from a multi-generational pedigree to study genetic and epigenetic inheritance across the complete genome.

The paper describes a new NHGRI Sample Repository containing seven iPSC lines generated from PBMCs, with genomic data for studying genetic variation and its functional implications.

The paper introduces a pharmacogenetic annotation database and search tool for 1000 Genomes Project biospecimens, enabling allele haplotype and diplotype analysis and supporting clinical PGx assay development.