High throughput genomic technologies have accelerated the pace of biomedical research. It is now routine to use Illumina pair-end libraries to generate large amounts of data to study genomic variation. While data generated from these libraries for genome and exome applications in majority of the cases is sufficient for characterization of single nucleotide polymorphisms, their use to resolve haplotypes and to characterize complex regions in the genome is severely limited. Similarly, it is highly desirable to obtain transcriptome data of a sample at the single cell level to characterize rare variants and cell types of functional significance. The requested 10X Genomics Chromium instrument is the only instrument currently on the market that can generate libraries leveraging low cost Illumina sequencing to generate long range genomic information and libraries to generate single cell transcriptome data. This is a new and promising technology that enables generation of excellent genome and exome phasing data. This instrument will be housed and maintained by the Single Cell Genomics Core facility at Baylor College of Medicine (BCM) and open to all researchers at BCM as well as other institutes in the Texas Medical Center. Ten major users have come together to prepare this application and nine of them are funded through NIH. In addition, three other users have expressed interest in using the 10X Genomics Chromium instrument. Three major applications are currently planned on this platform, which are: 1) Phased analysis of human genomes, 2) Single Cell RNA-Seq and 3) Improved low cost reference genome assembly. A pilot study performed using the 10X Genomics Chromium instrument provided impressive human genome sequencing and de-novo assembly results. A comprehensive end-to-end workflow has been planned to provide support to users for data collection, management, and analysis. Acquisition of this instrument will have a tremendous impact on several research programs at Baylor College of Medicine and other institutes within the Texas Medical Center.
We propose to acquire a 10X Genomics Chromium instrument that will be hosted in a core facility at BCM and shared by multiple NIH investigators engaged in genomics research. As many of these groups also work on genomics aspects of translational medicine, we anticipate an immediate and broader impact on human health.
