Molecular Genomics Sequencing Core Facility

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications, trials & patents

Abstract

The primary mission of the Molecular Genomic Core (MGC) is to provide next-generation sequencing services to the NICHD community. During FY22, MGC sequenced 3958 samples submitted as 246 projects for 40 different NICHD principle investigators. These efforts generated 16,294 Giga-bases (16.8 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. 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 FY22, the MGC has also collaborated bioinformatically with 15 investigators (33 projects with some bioinformatic contribution); in some cases, this involved analysis for projects sequenced outside of the MGC (4 of the 33 mentioned above).