The NIGMS Human Genetic Cell Repository (HGCR) and NHGRI Sample Repository for Human Genetic Research (SRHGR) now offer high molecular weight (HMW) DNA samples isolated from cell lines in the collections. HMW DNA is useful for long-read next-generation sequencing and studies that investigate large-scale genomic variation such as structural variation.
Recent advances in long-read next-generation sequencing technology, including Pacific Biosciences’ Single Molecule, Real-Time (SMRT®) sequencing and Oxford Nanopore Technologies’ Nanopore sequencing, have made it possible to produce sequence reads of up to 100 kilobases (kb). This has sparked a growing interest from the research community in obtaining high (100-300kb) and ultra-high (>300kb) molecular weight DNA for long-read sequencing.
Long-read sequencing allows researchers to characterize structural variation in regions of the genome that may be more challenging with other approaches, including inversions, translocations, duplications, and other types of repetitive elements. Additionally, longer sequence read lengths improve the accuracy of haplotype phasing and genome assembly. Long-read sequencing was also utilized to generate a ‘complete’ sequence of a human genome from a hydatidiform mole cell line in a recent 2021 study, and is currently being utilized by the Human Pangenome Reference Consortium in their efforts to improve, expand, and diversify the human reference genome.
Coriell’s Molecular Biology Laboratory uses Circulomics Nanobind® technology for automated preparation of high and ultrahigh molecular weight DNA (PMID: 27862402). High quality HMW DNA will be available for several reference samples via our catalog, and additional HMW DNA will be available on-demand as a custom service. A complete list of available samples on our catalog can be found here. If you are interested in HMW DNA from a cell line that is not currently available, please submit your request as a custom service.
