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BMC Medical Genomics|February 28, 2021
Detection of gene fusions using targeted next-generation sequencing: a comparative evaluationCarina Heydt, Christina B Wölwer, Oscar Velazquez Camacho, et al.
BMC Medical Genomics|March 20, 2021
A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposisWorrawit Wanitsuwan, Sukanya Vijasika, Pichai Jirarattanasopa, et al.
BMC Medical Genomics|January 9, 2014
Disease specific characteristics of fetal epigenetic markers for non-invasive prenatal testing of trisomy 21Ji Hyae Lim, Da Eun Lee, So Yeon Park, et al.
BMC Medical Genomics|November 15, 2012
A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspectiveWhitney L Wooderchak-Donahue, Brendan O'Fallon, Larissa V Furtado, et al.
BMC Medical Genomics|June 3, 2014
PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromesYannis J Trakadis, Caroline Buote, Jean-François Therriault, et al.
BMC Medical Genomics|June 3, 2014
Translating a gene expression signature for multiple myeloma prognosis into a robust high-throughput assay for clinical useRyan van Laar, Rachel Flinchum, Nathan Brown, et al.
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