Mahajan A, Wessel J, Willems SM, et al. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018;50(4):559-571. doi:10.1038/s41588-018-0084-1
Pérez-Palma E, May P, Iqbal S, et al. Identification of pathogenic variant enriched regions across genes and gene families. Genome Res. 2020;30(1):62-71. doi:10.1101/gr.252601.119
Vassy JL, Davis K, Kirby C, et al. How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation. J Gen Intern Med. 2018;33(6):877-885. doi:10.1007/s11606-017-4295-4
Dong Z, Ye L, Yang Z, et al. Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing. Curr Protoc Hum Genet. 2018;96:8.18.1-8.18.16. doi:10.1002/cphg.51
Broeckx BJG, Derrien T, Mottier S, et al. An exome sequencing based approach for genome-wide association studies in the dog. Sci Rep. 2017;7(1):15680. doi:10.1038/s41598-017-15947-9
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
Dhingra P, Martinez-Fundichely A, Berger A, et al. Identification of novel prostate cancer drivers using RegNetDriver: a framework for integration of genetic and epigenetic alterations with tissue-specific regulatory network. Genome Biol. 2017;18(1):141. doi:10.1186/s13059-017-1266-3
Wilch ES, Morton CC. Historical and Clinical Perspectives on Chromosomal Translocations. Adv Exp Med Biol. 2018;1044:1-14. doi:10.1007/978-981-13-0593-1_1
Bapat A, Anderson CD, Ellinor PT, Lubitz SA. Genomic basis of atrial fibrillation. Heart. 2018;104(3):201-206. doi:10.1136/heartjnl-2016-311027
Stancu MC, van Roosmalen MJ, Renkens I, et al. Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Nat Commun. 2017;8(1):1326. doi:10.1038/s41467-017-01343-4