References
- Kennedy SR, Schmitt MW, Fox EJ, et al. Detecting ultralow-frequency mutations by Duplex Sequencing. Nature Protoc 2014;9(11):2586-606
- Boland JF, Chung CC, Roberson D, et al. The new sequencer on the block: comparison of Life Technology’s Proton sequencer to an Illumina HiSeq for whole-exome sequencing. Hum Genet 2013;132(10):1153-63
- English AC, Salerno WJ, Hampton OA, et al. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics 2015;16(1):286
- Mandelker D, Amr SS, Pugh T, et al. Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology. J Mol Diagn 2014;16(6):639-47
- Bodi K, Perera AG, Adams PS, et al. Comparison of commercially available target enrichment methods for next-generation sequencing. J Biomol Tech 2013;24(2):73-86
- Hofvander J, Tayebwa J, Nilsson J, et al. RNA sequencing of sarcomas with simple karyotypes: identification and enrichment of fusion transcripts. Lab Invest 2015;95(6):603-9
- Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010;38(16):e164
- Topol EJ. The big medical data miss: challenges in establishing an open medical resource. Nat Rev Genet 2015;16(5):253-4
- Shashi V, McConkie-Rosell A, Rosell B, et al. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders. Genet Med 2014;16(2):176-82
- Jones S, Anagnostou V, Lytle K, et al. Personalized genomic analyses for cancer mutation discovery and interpretation. Sci Transl Med 2015;7(283):283ra53
- Bluestone JA, Tang Q. Immunotherapy: Making the case for precision medicine. Sci Transl Med 2015;7(280):280ed3
- Luu TD, Rusu AM, Walter V, et al. MSV3d: database of human MisSense Variants mapped to 3D protein structure. Database(Oxford) 2012;2012:bas018
- Alfaro JA, Sinha A, Kislinger T, Boutros PC. Onco-proteogenomics: cancer proteomics joins forces with genomics. Nat Methods 2014;11(11):1107-13
- Kohler S, Doelken SC, Mungall CJ, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res 2014;42(Database issue):D966-74
- Zemojtel T, Kohler S, Mackenroth L, et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med 2014;6(252):252ra123
- Aziz N, Zhao Q, Bry L, et al. College of american pathologists’ laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med 2015;139(4):481-93
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17(5):405-24
- Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15(7):565-74
- Hegde M, Bale S, Bayrak-Toydemir P, et al. Reporting incidental findings in genomic scale clinical sequencing–a clinical laboratory perspective: a report of the Association for Molecular Pathology. J Mol Diagn 2015;17(2):107-17
- Schrijver I, Aziz N, Jennings LJ, et al. Methods-based proficiency testing in molecular genetic pathology. J Mol Diagn 2014;16(3):283-7
- Vrijenhoek T, Kraaijeveld K, Elferink M, et al. Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects. Eur J Hum Genet 2015. [Epub ahead of print]