Molecular Genomics Sequencing Core Facility

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications, trials & patents

Abstract

The primary mission on the Molecular Genomic Core (MGC) is to provide next-generation sequencing services to the NICHD community. During the first 11 months of FY19, MGC sequenced 2492 samples submitted as 152 projects for 35 different NICHD principle investigators. This represents an 121% increase over the number of samples sequenced in the same period last year. These efforts generated 11,042 Giga-bases (11 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 exome sequencing, custom targeted exome sequencing, whole genome bisulfate sequencing, ribosomal profiling, HiChIP-Seq and single-cell-RNA-Seq. 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 the first 11 months of 2019, the MGC has also collaborated bioinformatically with 37 investigators (90 projects with some bioinformatic contribution); in some cases, this involved analysis for projects sequenced outside of the MGC (8 of the 90 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, this year on Epigenetic Sequencing.