Ye CJ, Chen J, Villani AC, et al. Genetic analysis of isoform usage in the human anti-viral response reveals influenza-specific regulation of transcripts under balancing selection. Genome Res. 2018;28(12):1812-1825. doi:10.1101/gr.240390.118PubMedDOIGoogle Scholar
Bodea CA, Mitchell AA, Bloemendal A, Day-Williams AG, Runz H, Sunyaev SR. PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants. Genome Biol. 2018;19(1):173. doi:10.1186/s13059-018-1546-6PubMedDOIGoogle Scholar
Frankish A, Diekhans M, Ferreira AM, et al. GENCODE reference annotation for the human and mouse genomes. Nucleic Acids Res. 2019;47(D1):D766-D773. doi:10.1093/nar/gky955PubMedDOIGoogle Scholar
Ferrareze PAG, Maufrais C, Streit RSA, et al. Application of an optimized annotation pipeline to the Cryptococcus deuterogattii genome reveals dynamic primary metabolic gene clusters and genomic impact of RNAi loss. G3 (Bethesda). 2021;11(2). doi:10.1093/g3journal/jkaa070PubMedDOIGoogle Scholar
Gymrek M, Willems T, Reich D, Erlich Y iv. Interpreting short tandem repeat variations in humans using mutational constraint. Nat Genet. 2017;49(10):1495-1501. doi:10.1038/ng.3952PubMedDOIGoogle Scholar
Gazal S, Loh PR, Finucane HK, et al. Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Nat Genet. 2018;50(11):1600-1607. doi:10.1038/s41588-018-0231-8PubMedDOIGoogle Scholar
Vis DJ, Lewin J, Liao RG, et al. Towards a global cancer knowledge network: dissecting the current international cancer genomic sequencing landscape. Ann Oncol. 2017;28(5):1145-1151. doi:10.1093/annonc/mdx037PubMedDOIGoogle Scholar
Matthews BJ, Dudchenko O, Kingan SB, et al. Improved reference genome of Aedes aegypti informs arbovirus vector control. Nature. 2018;563(7732):501-507. doi:10.1038/s41586-018-0692-zPubMedDOIGoogle Scholar
Cuomo CA, Shea T, Yang B, Rao R, Forche A. Whole Genome Sequence of the Heterozygous Clinical Isolate 81-B-5. G3 (Bethesda). 2017;7(9):2883-2889. doi:10.1534/g3.117.043547PubMedDOIGoogle Scholar
Ernst J, Kellis M. Chromatin-state discovery and genome annotation with ChromHMM. Nat Protoc. 2017;12(12):2478-2492. doi:10.1038/nprot.2017.124PubMedDOIGoogle Scholar