Associated Papers
Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.
Watson CM et al.
Molecular Diagnosis & Therapy, 2017
Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.
Vysotskaia VS et al.
Peerj, 2017
28243543 (PubMed )
Supplement: peerj-05-3046-s004.xlsx › SNVs_indels
Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.
Kang HP et al.
Peerj, 2016
27375968 (PubMed )
Supplement: peerj-04-2162-s004.xlsx › Sheet1
Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.
Watson CM et al.
Human Mutation, 2014
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