Funding Opportunity: Measurement Science and Engineering (MSE) Research Grant Programs (NIST-MSE-01)

Specific Research Grant Program: The Material Measurement Laboratory (MML) Grant Program

Title: Identification of polymorphic inversions on human reference genomes


Reference collections of human genomes are a critically important resource for biomedical discovery. In collaboration with the 1000 Genomes Human Genome Structural Variation Consortium (HGSVC), we recently described that the single cell Strand-seq method, which was developed in my laboratory, has unique potential to detect large polymorphic inversions and map them onto fully phased genome assemblies. To evaluate the potential of Strand-seq to improve variant calling, haplotyping and genome assembly, we now propose to use Strand-seq to generate high quality Strand-seq data of two genetically diverse mother-father-son trios with broad consent for data sharing. This work will be performed in collaboration with research teams at NIST to benchmark the detection of large insertions/deletions and structural variant calls, as well as characterize new variants in repeat-rich genomic contexts that are otherwise ignored by short-read sequencing. Please do not hesitate to contact us with any additional questions.

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