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Marc L. Salit (Assoc)

Marc Salit is leading a group at the National Institute of Standards and Technology (NIST) dedicated to technology development and measurement infrastructure (standards, reference data, predictive models) for massively multiplexed genome-scale measurement methods. This "Multiplexed Biomolecular Science" group is a multidisciplinary team growing out of work to address microarray measurement science issues, and a long-running effort in technology and measurement science in microfluidics.

Marc has worked extensively in measurement science in chemistry and physics, with emphasis on precision measurements, lab automation, algorithm development, measurement uncertainty, traceability, and standards development. His research is now focused on bringing experience from the chemical metrology community to the emerging biometrology community.

Publications

Benchmarking challenging small variants with linked and long reads

Author(s)
Justin Wagner, Nathanael David Olson, Lindsay Harris, Marc L. Salit, Fritz Sedlazeck, Chunlin Xiao, Justin Zook
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines and develop variant calling and sequencing methods. Here we use

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

Author(s)
Stephen Lincoln, Tina Hambuch, Justin Zook, Sara Bristow, Kathryn Hatchell, Rebecca Truty, Michael Kennemer, Brian Shirts, Andrew Fellowes, Shimul Chowdhury, Eric Klee, Shazia Mahamdallie, Megan Cleveland, Peter Vallone, Yan Ding, Sheila Seal, Wasanthi DeSilva, Farol Tomson, Catherine Huang Huang, Russell Garlick, Nazneen Rahman, Marc L. Salit, Stephen Kingsmore, Matthew Ferber, Swaroop Aradhya, Robert Nussbaum
Next-generation sequencing (NGS) is widely used and cost-effective. However, depending on the specific methods used, NGS can have limitations with certain
Created August 15, 2019, Updated December 8, 2022