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 FY21, MGC sequenced 2902 samples submitted as 245 projects for 37 different NICHD principle investigators. This represents a 16% increase compared the number of samples sequenced in the same period last year. Note the COVID-19 pandemic somewhat depressed activity at the MGC last year since the NIH was closed for at least 3 months. These efforts generated 20,177 Giga-bases (20.2 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 FY21, the MGC has also collaborated bioinformatically with 18 investigators (45 projects with some bioinformatic contribution); in some cases, this involved analysis for projects sequenced outside of the MGC (2 of the 45 mentioned above). As part of MGC's ongoing educational commitment, MGC has sponsored the MGC Sequencing Seminar Series. MGC has co-hosted, along with the NHLBI Sequencing Core, an annual Sequencing Symposium.