- Single molecule molecular inversion probes for targeted, high accuracy detection of low-frequency variation.Genome Res. 2013; 23: 843-854
- Comparison of next-generation sequencing panels and platforms for detection and verification of somatic tumor variants for clinical diagnostics.J Mol Diagn. 2016; 18: 842-850
- Comparison of 2 commercially available next-generation sequencing platforms in oncology.JAMA Oncol. 2017; 3: 996-998
- ACMG clinical laboratory standards for next-generation sequencing.Genet Med. 2013; 15: 733-747
- Risk stratification and emerging treatment strategies in acute myeloid leukemia.J Natl Compr Cancer Netw. 2017; 11 Suppl 5: 667-669
- Guidelines for validation of next-generation sequencing–based oncology panels: a joint consensus recommendation of the Association for Molecular Pathology and College of American Pathologists.J Mol Diagn. 2017; 19: 341-365
- Microdroplet-based PCR enrichment for large-scale targeted sequencing.Nat Biotechnol. 2009; 27: 1025-1031
- Uniform amplification of multiple DNAs by emulsion PCR.Biochem Biophys Res Commun. 2007; 352: 323-328
- Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence data.J Mol Diagn. 2014; 16: 75-88
- The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.Nucleic Acids Res. 2012; 40: 2426-2431
- A review of somatic single nucleotide variant calling algorithms for next-generation sequencing data.Comput Struct Biotechnol J. 2018; 16: 15-24
- Cutadapt removes adapter sequences from high-throughput sequencing reads.EMBnet.J. 2011; 17: 10-12
- Aligning sequence reads, clone sequences and assembly contigs with bwa-mem. ArXiv.2013: 1303
- VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing.Genome Res. 2012; 22: 568-576
- A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations.J Mol Diagn. 2013; 15: 796-809
- The Sequence alignment/Map format and SAMtools.Bioinformatics. 2009; 25: 2078-2079
- The origin and evolution of mutations in acute myeloid leukemia.Cell. 2012; 150: 264-278
- Optimizing cancer genome sequencing and analysis.Cell Syst. 2015; 1: 210-223
Supported by Genome British Columbia ( POC002 , SOF121 , X01CBP ).
Disclosures: None declared.
Current address of E.R.S., Invitae, San Francisco, CA.