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Paper Details

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.
Genet Med
37
2021
1,217 genes, CNVs, copy, hereditary cancer, indels, low-complexity or segmentally duplicated regions, patients
Author NameAffiliation
Stephen E Lincoln
Tina Hambuch
Justin M ZookNational Institute of Standards and Technology
Rebecca Truty
Brian H ShirtsUniversity of Washington
Eric W KleeMayo Clinic
Marc SalitNational Institute of Standards and Technology
Marc SalitStanford University
Stephen F KingsmoreRady Children's Institute for Genomic Medicine
Matthew J FerberMayo Clinic
Robert L Nussbaum
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