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BMC Genomics|July 17, 2019
A clinically validated whole genome pipeline for structural variant detection and analysisNir Neerman, Gregory Faust, Naomi Meeks, et al.
Frontiers in Genetics|May 8, 2023
ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testingLudmila Kaplun, Greice Krautz-Peterson, Nir Neerman, et al.
International Journal of Molecular Sciences|March 27, 2025
ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting ChallengesLudmila Kaplun, Greice Krautz-Peterson, Nir Neerman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a changeHeidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
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