Molecular Genomics Sequencing Core Facility

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications & trials

Abstract

The primary mission of the Molecular Genomic Core (MGC) is to provide next-generation sequencing services to the NICHD community. During FY24, MGC sequenced 4648 samples submitted as 194 projects across 227 flowcells for 33 different NICHD principle investigators. These efforts generated 16,965 Giga-bases (16.9 Tera-bases) of sequenced DNA and RNA samples. During FY25 (till Aug.29/2025), MGC sequenced 3562 samples submitted as 145 projects across 243 flowcells for 36 different principle investigators. These efforts generated 12,515 Giga-bases (12.5 Tera-bases) of sequenced DNA and RNA samples. In nearly all cases, MGC constructs the sequencing libraries, but MGC also provides sequencing for libraries generated by investigators. The types of samples sequenced include the following: RNA-Seq, microRNA-Seq, whole genome sequencing, whole exome sequencing, custom targeted exome sequencing, whole genome bisulfate sequencing, ribosomal profiling, HiC-Seq, ChIP-Seq, ATAC-Seq, single-cell-RNA-Seq and microbiome sequencing. We introduced a new spatial transcriptomics workflow, Visium in FY23, and an updated version, Visium HD in FY24. Using this workflow we have thus far completed 59 Visium runs and this technology is expected to grow exponentially (along with a complementary technology platform, Xenium), in the coming FYs. In most cases, MGC provides primary bioinformatic analysis for samples we sequence. This includes quality checking, demultiplexing and alignment, then a first level of data analysis; for example, differential expression for RNA-Seq data, or variant calling for whole exome data. In addition, during FY24, the MGC has also collaborated with 26 investigators (73 projects) with varying levels of extended bioinformatic analyses. This include advanced analyses on 36 projects with MGC-generated datasets and 2 projects where the data was generated outside of MGC for 16 investigators.