Biology subjects

Gharani, N.

Publications and source records attributed to Gharani, N..

4 recordsLinked to original sources

bioRxiv2026

Community member, community liaison and researcher perspectives on the creation of HapMap and 1000 Genomes Project iPSCs

The National Human Genome Research Institute (NHGRI) Repository for Human Genetic Research (NHGRI Repository) distributes renewable lymphoblastoid cell lines (LCL) and cell line DNAs donated by members of 26 communities who have taken part in the International HapMap and 1000 Genomes Projects. The relatively recent introduction of induced pluripotent stem cell (iPSC) reprogramming technologies offers a new opportunity to create iPSCs from HapMap and 1000 Genomes Project biospecimens. However, since relevant iPSC technology did not exist when the HapMap and 1000 Genomes Projects began, it was not explicitly included in the consent process. To explore donor community and researcher perspectives on potential HapMap and 1000 Genomes Project iPSC creation, we conducted an online, semi-structured survey. The majority of community (86%) and research (86%) respondents agreed that creating iPSCs from HapMap and 1000 Genomes Project biospecimens could benefit the research community; however non-trivial concerns (36% community respondents and 16% researcher respondents) and doubts (21% community respondents and 11% researcher respondents) about HapMap and 1000 Genomes Project iPSC creation were also shared. Given these results, we will continue to explore opportunities to engage with HapMap and 1000 Genomes Project communities that include educational materials and detailed discussions regarding the potential for creating iPSCs from their community biospecimens. In parallel, we will continue to grow the existing NHGRI Repository iPSC collection with new donor submissions through the Human Pangenome Reference Consortium (HPRC) that explicitly consented to the creation of iPSCs.

genomics↗

bioRxiv2025

New iPSC resource with long-read whole genome sequencing characterizations for enhanced in vitro modeling

Here we present a new iPSC resource of apparently healthy subject biospecimens available to the research community through the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS Repository). This resource includes five iPSCs and matched parental cell lines with accompanying publicly available, HiFi whole-genome sequencing data. Structural variant (SV) and single nucleotide variant (SNV) concordance between iPSC and parental lines was generally high; however, we found a notable reduction in concordance between the iPSC reprogrammed with retroviral reprogramming and its parental line consistent with previous work showing newer Sendai approaches to be more robust in preserving genomic integrity. This iPSC resource additionally includes pharmacogenomic and human leukocyte antigen (HLA) gene annotations as well as a set of user-friendly, web-based search tools to visualize and explore SVs and SNVs. This new resource is designed to offer a highly characterized set of in vitro models for research into cell-type specific functional characterization of genetic, genomic and pharmacogenomic variation. More generally, these renewable biospecimens and genomic data search tools are available to the scientific community to support high-quality and reproducible biomedical research.

genomics↗

bioRxiv2023

Star allele search: a pharmacogenetic annotation database and user-friendly search tool of publicly available 1000 Genomes Project biospecimens

Here we describe a new public pharmacogenetic (PGx) annotation database of a large (n=3202) and diverse biospecimen collection of 1000 Genomes Project cell lines and DNAs. The database is searchable with a user friendly, web-based tool (www.coriell.org/StarAllele/Search). This resource leverages existing whole genome sequencing data and PharmVar annotations to characterize *alleles for each biospecimen in the collection. This new tool is designed to facilitate in vitro functional characterization of *allele haplotypes and diplotypes as well as support clinical PGx assay development, validation, and implementation.

bioinformatics↗

bioRxiv2023

ursaPGx: a new R package to annotate pharmacogenetic star alleles using phased whole genome sequencing data

Long-read sequencing technologies offer new opportunities to generate high confidence phased whole genome sequencing data for robust pharmacogenetic annotation. Here we describe a new user-friendly R package, ursaPGx, designed to accept multi-sample phased whole genome sequencing data VCF input files and output star allele annotations for pharmacogenes annotated in PharmVar.

bioinformatics↗