Publications

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2019
Fischer J, Higham JP, Alberts SC, Barrett L, Beehner JC, Bergman TJ, Carter AJ, Collins A, Elton S, Fagot J, da Silva MJoana Ferr, Hammerschmidt K, Henzi P, Jolly CJ, Knauf S, Kopp GH, Rogers J, Roos C, Ross C, Seyfarth RM, Silk J, Snyder-Mackler N, Staedele V, Swedell L, Wilson ML, Zinner D. Insights into the evolution of social systems and species from baboon studies. Elife. 2019 ;8.
Hollister EB, Oezguen N, Chumpitazi BP, Luna RAnn, Weidler EM, Rubio-Gonzales M, Dahdouli M, Cope JL, Mistretta T-A, Raza S, Metcalf GA, Muzny DM, Gibbs RA, Petrosino JF, Heitkemper M, Savidge TC, Shulman RJ, Versalovic J. Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome. J Mol Diagn. 2019 ;21(3):449-461.
Luo R, Sedlazeck FJ, Lam T-W, Schatz MC. A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun. 2019 ;10(1):998.
Alonge M, Soyk S, Ramakrishnan S, Wang X, Goodwin S, Sedlazeck FJ, Lippman ZB, Schatz MC. RaGOO: fast and accurate reference-guided scaffolding of draft genomes. Genome Biol. 2019 ;20(1):224.
Mahmoud M, Gobet N, Cruz-Dávalos DIvette, Mounier N, Dessimoz C, Sedlazeck FJ. Structural variant calling: the long and the short of it. Genome Biol. 2019 ;20(1):246.
Leung YYee, Valladares O, Chou Y-F, Lin H-J, Kuzma AB, Cantwell L, Qu L, Gangadharan P, Salerno WJ, Schellenberg GD, San Wang L-. VCPA: genomic variant calling pipeline and data management tool for Alzheimer's Disease Sequencing Project. Bioinformatics. 2019 ;35(10):1768-1770.
2018
Sedlazeck FJ, Rescheneder P, Smolka M, Fang H, Nattestad M, von Haeseler A, Schatz MC. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 ;15(6):461-468.
Rogers J. Adding resolution and dimensionality to comparative genomics: moving from reference genomes to clade genomics. Genome Biol. 2018 ;19(1):115.
Creighton CJ. The clinical applications of The Cancer Genome Atlas project for bladder cancer. Expert Rev Anticancer Ther. 2018 ;18(10):973-980.
Liu J, Zhou Y, Liu S, Song X, Yang X-Z, Fan Y, Chen W, Akdemir ZCoban, Yan Z, Zuo Y, Du R, Liu Z, Yuan B, Zhao S, Liu G, Chen Y, Zhao Y, Lin M, Zhu Q, Niu Y, Liu P, Ikegawa S, Song Y-Q, Posey JE, Qiu G, Zhang F, Wu Z, Lupski JR, Wu N. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet. 2018 ;137(6-7):553-567.
Lindsey ARI, Kelkar YD, Wu X, Sun D, Martinson EO, Yan Z, Rugman-Jones PF, Hughes DST, Murali SC, Qu J, Dugan S, Lee SL, Chao H, Dinh H, Han Y, Doddapaneni H, Worley KC, Muzny DM, Ye G, Gibbs RA, Richards S, Yi SV, Stouthamer R, Werren JH. Comparative genomics of the miniature wasp and pest control agent Trichogramma pretiosum. BMC Biol. 2018 ;16(1):54.
Jacobs DI, Fukumura K, Bainbridge MN, Armstrong GN, Tsavachidis S, Gu X, Doddapaneni H, Hu J, Jayaseelan JC, Muzny DM, Huse JT, Bondy ML. Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series. Neuro Oncol. 2018 ;20(12):1625-1633.
Aronson S, Babb L, Ames D, Gibbs RA, Venner E, Connelly JJ, Marsolo K, Weng C, Williams MS, Hartzler AL, Liang WH, Ralston JD, Devine EBeth, Murphy S, Chute CG, Caraballo PJ, Kullo IJ, Freimuth RR, Rasmussen LV, Wehbe FH, Peterson JF, Robinson JR, Wiley K, Taylor COverby. Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. J Am Med Inform Assoc. 2018 ;25(10):1375-1381.
Richards S. Full disclosure: Genome assembly is still hard. PLoS Biol. 2018 ;16(4):e2005894.
Armisén D, Rajakumar R, Friedrich M, Benoit JB, Robertson HM, Panfilio KA, Ahn S-J, Poelchau MF, Chao H, Dinh H, Doddapaneni H, Dugan S, Gibbs RA, Hughes DST, Han Y, Lee SL, Murali SC, Muzny DM, Qu J, Worley KC, Munoz-Torres M, Abouheif E, Bonneton F, Chen T, Chiang L-M, Childers CP, Cridge AG, Crumière AJJ, Decaras A, Didion EM, Duncan EJ, Elpidina EN, Favé M-J, Finet C, Jacobs CGC, Jarvela AMCheatle, Jennings EC, Jones JW, Lesoway MP, Lovegrove MR, Martynov A, Oppert B, Lillico-Ouachour A, Rajakumar A, Refki PNagui, Rosendale AJ, Santos MEmilia, Toubiana W, Van der Zee M, Jentzsch IMVargas, Lowman AVargas, Viala S, Richards S, Khila A. The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water. BMC Genomics. 2018 ;19(1):832.
Wiegmann BM, Richards S. Genomes of Diptera. Curr Opin Insect Sci. 2018 ;25:116-124.
Hsieh JJ, Le V, Cao D, Cheng EH, Creighton CJ. Genomic classifications of renal cell carcinoma: a critical step towards the future application of personalized kidney cancer care with pan-omics precision. J Pathol. 2018 ;244(5):525-537.
Harel T, Lupski JR. Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2018 ;93(3):439-449.
Campbell JD, Yau C, Bowlby R, Liu Y, Brennan K, Fan H, Taylor AM, Wang C, Walter V, Akbani R, Byers LAverett, Creighton CJ, Coarfa C, Shih J, Cherniack AD, Gevaert O, Prunello M, Shen H, Anur P, Chen J, Cheng H, D Hayes N, Bullman S, Pedamallu CSekhar, Ojesina AI, Sadeghi S, Mungall KL, A Robertson G, Benz C, Schultz A, Kanchi RS, Gay CM, Hegde A, Diao L, Wang J, Ma W, Sumazin P, Chiu H-S, Chen T-W, Gunaratne P, Donehower L, Rader JS, Zuna R, Al-Ahmadie H, Lazar AJ, Flores ER, Tsai KY, Zhou JH, Rustgi AK, Drill E, Shen R, Wong CK, Stuart JM, Laird PW, Hoadley KA, Weinstein JN, Peto M, Pickering CR, Chen Z, Van Waes C. Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas. Cell Rep. 2018 ;23(1):194-212.e6.
Zhou Q, Yao F, Wang F, Li H, Chen R, Sui R. A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX). Am J Med Genet A. 2018 ;176(1):214-218.
Yeung K, Wang F, Li Y, Wang K, Mardon G, Chen R. Integrative genomic analysis reveals novel regulatory mechanisms of eyeless during Drosophila eye development. Nucleic Acids Res. 2018 ;46(22):11743-11758.
Creighton CJ. Making Use of Cancer Genomic Databases. Curr Protoc Mol Biol. 2018 ;121:19.14.1-19.14.13.
Greytak SR, Engel KB, Zmuda E, Casas-Silva E, Guan P, Hoadley KA, Mungall AJ, Wheeler DA, Doddapaneni H, Moore HM. National Cancer Institute Biospecimen Evidence-Based Practices: Harmonizing Procedures for Nucleic Acid Extraction from Formalin-Fixed, Paraffin-Embedded Tissue. Biopreserv Biobank. 2018 ;16(4):247-250.
Chen F, Zhang Y, Gibbons DL, Deneen B, Kwiatkowski DJ, Ittmann M, Creighton CJ. Pan-Cancer Molecular Classes Transcending Tumor Lineage Across 32 Cancer Types, Multiple Data Platforms, and over 10,000 Cases. Clin Cancer Res. 2018 ;24(9):2182-2193.
Ding L, Bailey MH, Porta-Pardo E, Thorsson V, Colaprico A, Bertrand D, Gibbs DL, Weerasinghe A, Huang K-L, Tokheim C, Cortés-Ciriano I, Jayasinghe R, Chen F, Yu L, Sun S, Olsen C, Kim J, Taylor AM, Cherniack AD, Akbani R, Suphavilai C, Nagarajan N, Stuart JM, Mills GB, Wyczalkowski MA, Vincent BG, Hutter CM, Zenklusen JClaude, Hoadley KA, Wendl MC, Shmulevich L, Lazar AJ, Wheeler DA, Getz G. Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics. Cell. 2018 ;173(2):305-320.e10.