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Article

Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2021

Roloff Gregory W, Godley Lucy A, Drazer Michael W

Abstract excerpt

PURPOSE: To determine the degree of testing consistency among commercially available diagnostic assays for hereditary hematopoietic malignancies (HHMs). METHODS: Next-generation sequencing assays designed for the diagnosis of HHMs were studied to determine which genes were sequenced, their ability to detect variant types relevant for HHMs, and clinical-grade characteristics such as price, turnaround time, and...

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Acute Lymphoblastic Leukemia research
Acute Myeloid Leukemia Research
Diagnostic Tests, Routine
Genetic Predisposition to Disease
Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hematologic Neoplasms

High-Throughput Nucleotide Sequencing

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Identifiers

PMID: 32807974
DOI: 10.1038/s41436-020-0934-y
PMCID: PMC9299956

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