MacConaill LE, Burns RT, Nag A, et al. Unique, dual-indexed sequencing adapters with UMIs effectively eliminate index cross-talk and significantly improve sensitivity of massively parallel sequencing. BMC Genomics. 2018;19(1):30. doi:10.1186/s12864-017-4428-5
Gray SW, Gagan J, Cerami E, et al. Interactive or static reports to guide clinical interpretation of cancer genomics. J Am Med Inform Assoc. 2018;25(5):458-464. doi:10.1093/jamia/ocx150
Schilit SLP, Morton CC. 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. Hum Genet. 2018;137(1):55-62. doi:10.1007/s00439-017-1853-0
Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB. Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. Mol Genet Genomic Med. 2017;5(6):678-691. doi:10.1002/mgg3.325
Sanghvi RV, Buhay CJ, Powell BC, et al. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2018;20(8):855-866. doi:10.1038/gim.2017.192
Lake NJ, Webb BD, Stroud DA, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017;101(2):239-254. doi:10.1016/j.ajhg.2017.07.005
Kangeyan D, Dunford A, Iyer S, et al. A (fire)cloud-based DNA methylation data preprocessing and quality control platform. BMC Bioinformatics. 2019;20(1):160. doi:10.1186/s12859-019-2750-4
Onuchic V, Lurie E, Carrero I, et al. Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci. Science. 2018;361(6409). doi:10.1126/science.aar3146
Clement K, Farouni R, Bauer DE, Pinello L. AmpUMI: design and analysis of unique molecular identifiers for deep amplicon sequencing. Bioinformatics. 2018;34(13):i202-i210. doi:10.1093/bioinformatics/bty264
Miyamoto K, Nguyen KT, Allen GE, et al. Chromatin Accessibility Impacts Transcriptional Reprogramming in Oocytes. Cell Rep. 2018;24(2):304-311. doi:10.1016/j.celrep.2018.06.030