PUBLICATIONS

FROM PUBMED

  1. Sokolowski, EK, Kursawe, R, Selvam, V, Bhuiyan, RM, Thibodeau, A, Zhao, C et al.. Multi-omic human pancreatic islet endoplasmic reticulum and cytokine stress response mapping provides type 2 diabetes genetic insights. Cell Metab. 2024;36 (11):2468-2488.e7. doi: 10.1016/j.cmet.2024.09.006. PubMed PMID:39383866 .
  2. Daniele, C, Wacks, RE, Farland, LV, Manson, JE, Qi, L, Shadyab, AH et al.. Associations between birthweight and preterm birth and the ages at menarche and menopause. BMC Womens Health. 2024;24 (1):546. doi: 10.1186/s12905-024-03384-6. PubMed PMID:39363289 PubMed Central PMC11448270.
  3. Mandla, R, Lorenz, K, Yin, X, Bocher, O, Huerta-Chagoya, A, Arruda, AL et al.. Multi-omics characterization of type 2 diabetes associated genetic variation. medRxiv. 2024; :. doi: 10.1101/2024.07.15.24310282. PubMed PMID:39072045 PubMed Central PMC11275663.
  4. Stefanucci, L, Moslemi, C, Tomé, AR, Virtue, S, Bidault, G, Gleadall, NS et al.. SMIM1 absence is associated with reduced energy expenditure and excess weight. Med. 2024;5 (9):1083-1095.e6. doi: 10.1016/j.medj.2024.05.015. PubMed PMID:38906141 .
  5. Suzuki, K, Hatzikotoulas, K, Southam, L, Taylor, HJ, Yin, X, Lorenz, KM et al.. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature. 2024;627 (8003):347-357. doi: 10.1038/s41586-024-07019-6. PubMed PMID:38374256 PubMed Central PMC10937372.
  6. Rahalkar, N, Holman-Vittone, A, Daniele, C, Wacks, R, Gagnon, A, D'Agata, A et al.. Preterm birth, birthweight, and subsequent risk for depression. J Dev Orig Health Dis. 2023;14 (5):623-630. doi: 10.1017/S2040174423000296. PubMed PMID:37886824 PubMed Central PMC10841880.
  7. Sarsani, V, Brotman, SM, Xianyong, Y, Fernandes Silva, L, Laakso, M, Spracklen, CN et al.. A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin. HGG Adv. 2024;5 (1):100252. doi: 10.1016/j.xhgg.2023.100252. PubMed PMID:37859345 PubMed Central PMC10652123.
  8. Daniele, C, Farland, LV, Park, K, Schnatz, PF, Shadyab, AH, Stefanick, ML et al.. Association of maternal birth weight and maternal preterm birth with subsequent risk for adverse reproductive outcomes: The Women's Health Initiative. Early Hum Dev. 2023;184 :105839. doi: 10.1016/j.earlhumdev.2023.105839. PubMed PMID:37549575 PubMed Central PMC10658641.
  9. Graham, SE, Clarke, SL, Wu, KH, Kanoni, S, Zajac, GJM, Ramdas, S et al.. Author Correction: The power of genetic diversity in genome-wide association studies of lipids. Nature. 2023;618 (7965):E19-E20. doi: 10.1038/s41586-023-06194-2. PubMed PMID:37237109 PubMed Central PMC10355188.
  10. Li, JH, Brenner, LN, Kaur, V, Figueroa, K, Schroeder, P, Huerta-Chagoya, A et al.. Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH. Diabetologia. 2023;66 (7):1260-1272. doi: 10.1007/s00125-023-05922-7. PubMed PMID:37233759 PubMed Central PMC10790310.
  11. Holman-Vittone, A, Monahan, B, LeBlanc, ES, Liu, S, Nassir, R, Saquib, N et al.. Associations of maternal preterm birth with subsequent risk for type 2 diabetes in women from the women's health initiative. J Dev Orig Health Dis. 2023;14 (3):333-340. doi: 10.1017/S2040174423000089. PubMed PMID:37114530 PubMed Central PMC10205667.
  12. Suzuki, K, Hatzikotoulas, K, Southam, L, Taylor, HJ, Yin, X, Lorenz, KM et al.. Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications. medRxiv. 2023; :. doi: 10.1101/2023.03.31.23287839. PubMed PMID:37034649 PubMed Central PMC10081410.
  13. Kanoni, S, Graham, SE, Wang, Y, Surakka, I, Ramdas, S, Zhu, X et al.. Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biol. 2022;23 (1):268. doi: 10.1186/s13059-022-02837-1. PubMed PMID:36575460 PubMed Central PMC9793579.
  14. Yengo, L, Vedantam, S, Marouli, E, Sidorenko, J, Bartell, E, Sakaue, S et al.. A saturated map of common genetic variants associated with human height. Nature. 2022;610 (7933):704-712. doi: 10.1038/s41586-022-05275-y. PubMed PMID:36224396 PubMed Central PMC9605867.
  15. Ramdas, S, Judd, J, Graham, SE, Kanoni, S, Wang, Y, Surakka, I et al.. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Am J Hum Genet. 2022;109 (8):1366-1387. doi: 10.1016/j.ajhg.2022.06.012. PubMed PMID:35931049 PubMed Central PMC9388392.
  16. Winkler, TW, Rasheed, H, Teumer, A, Gorski, M, Rowan, BX, Stanzick, KJ et al.. Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals. Commun Biol. 2022;5 (1):580. doi: 10.1038/s42003-022-03448-z. PubMed PMID:35697829 PubMed Central PMC9192715.
  17. Mahajan, A, Spracklen, CN, Zhang, W, Ng, MCY, Petty, LE, Kitajima, H et al.. Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. Nat Genet. 2022;54 (5):560-572. doi: 10.1038/s41588-022-01058-3. PubMed PMID:35551307 PubMed Central PMC9179018.
  18. Loh, M, Zhang, W, Ng, HK, Schmid, K, Lamri, A, Tong, L et al.. Author Correction: Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. Commun Biol. 2022;5 (1):441. doi: 10.1038/s42003-022-03404-x. PubMed PMID:35513483 PubMed Central PMC9072318.
  19. Loh, M, Zhang, W, Ng, HK, Schmid, K, Lamri, A, Tong, L et al.. Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. Commun Biol. 2022;5 (1):329. doi: 10.1038/s42003-022-03248-5. PubMed PMID:35393509 PubMed Central PMC8991226.
  20. Ziogas, C, Hillyer, J, Saftlas, AF, Spracklen, CN. Validation of birth certificate and maternal recall of events in labor and delivery with medical records in the Iowa health in pregnancy study. BMC Pregnancy Childbirth. 2022;22 (1):232. doi: 10.1186/s12884-022-04581-7. PubMed PMID:35317778 PubMed Central PMC8939232.
  21. Wainschtein, P, Jain, D, Zheng, Z, TOPMed Anthropometry Working Group, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Cupples, LA et al.. Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data. Nat Genet. 2022;54 (3):263-273. doi: 10.1038/s41588-021-00997-7. PubMed PMID:35256806 PubMed Central PMC9119698.
  22. Graham, SE, Clarke, SL, Wu, KH, Kanoni, S, Zajac, GJM, Ramdas, S et al.. The power of genetic diversity in genome-wide association studies of lipids. Nature. 2021;600 (7890):675-679. doi: 10.1038/s41586-021-04064-3. PubMed PMID:34887591 PubMed Central PMC8730582.
  23. Monahan, B, Farland, LV, Shadyab, AH, Hankinson, SE, Manson, JE, Spracklen, CN et al.. Birthweight and subsequent risk for thyroid and autoimmune conditions in postmenopausal women. J Dev Orig Health Dis. 2022;13 (4):463-470. doi: 10.1017/S204017442100057X. PubMed PMID:34658316 PubMed Central PMC9013724.
  24. Polfus, LM, Darst, BF, Highland, H, Sheng, X, Ng, MCY, Below, JE et al.. Genetic discovery and risk characterization in type 2 diabetes across diverse populations. HGG Adv. 2021;2 (2):. doi: 10.1016/j.xhgg.2021.100029. PubMed PMID:34604815 PubMed Central PMC8486151.
  25. Chen, J, Spracklen, CN, Marenne, G, Varshney, A, Corbin, LJ, Luan, J et al.. The trans-ancestral genomic architecture of glycemic traits. Nat Genet. 2021;53 (6):840-860. doi: 10.1038/s41588-021-00852-9. PubMed PMID:34059833 PubMed Central PMC7610958.
  26. Spracklen, CN, Sim, X. Progress in Defining the Genetic Contribution to Type 2 Diabetes in Individuals of East Asian Ancestry. Curr Diab Rep. 2021;21 (6):17. doi: 10.1007/s11892-021-01388-2. PubMed PMID:33846905 .
  27. Yaghootkar, H, Zhang, Y, Spracklen, CN, Karaderi, T, Huang, LO, Bradfield, J et al.. Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity. Diabetes. 2020;69 (12):2806-2818. doi: 10.2337/db20-0070. PubMed PMID:32917775 PubMed Central PMC7679778.
  28. Spracklen, CN, Iyengar, AK, Vadlamudi, S, Raulerson, CK, Jackson, AU, Brotman, SM et al.. Adiponectin GWAS loci harboring extensive allelic heterogeneity exhibit distinct molecular consequences. PLoS Genet. 2020;16 (9):e1009019. doi: 10.1371/journal.pgen.1009019. PubMed PMID:32915782 PubMed Central PMC7511027.
  29. Vuckovic, D, Bao, EL, Akbari, P, Lareau, CA, Mousas, A, Jiang, T et al.. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020;182 (5):1214-1231.e11. doi: 10.1016/j.cell.2020.08.008. PubMed PMID:32888494 PubMed Central PMC7482360.
  30. Chen, MH, Raffield, LM, Mousas, A, Sakaue, S, Huffman, JE, Moscati, A et al.. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell. 2020;182 (5):1198-1213.e14. doi: 10.1016/j.cell.2020.06.045. PubMed PMID:32888493 PubMed Central PMC7480402.
  31. Spracklen, CN, Horikoshi, M, Kim, YJ, Lin, K, Bragg, F, Moon, S et al.. Identification of type 2 diabetes loci in 433,540 East Asian individuals. Nature. 2020;582 (7811):240-245. doi: 10.1038/s41586-020-2263-3. PubMed PMID:32499647 PubMed Central PMC7292783.
  32. Zhong, W, Dong, L, Poston, TB, Darville, T, Spracklen, CN, Wu, D et al.. Inferring Regulatory Networks From Mixed Observational Data Using Directed Acyclic Graphs. Front Genet. 2020;11 :8. doi: 10.3389/fgene.2020.00008. PubMed PMID:32127796 PubMed Central PMC7038820.
  33. Raffield, LM, Iyengar, AK, Wang, B, Gaynor, SM, Spracklen, CN, Zhong, X et al.. Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. Am J Hum Genet. 2020;106 (1):112-120. doi: 10.1016/j.ajhg.2019.12.002. PubMed PMID:31883642 PubMed Central PMC7042494.
  34. Clark, DW, Okada, Y, Moore, KHS, Mason, D, Pirastu, N, Gandin, I et al.. Associations of autozygosity with a broad range of human phenotypes. Nat Commun. 2019;10 (1):4957. doi: 10.1038/s41467-019-12283-6. PubMed PMID:31673082 PubMed Central PMC6823371.
  35. Tin, A, Marten, J, Halperin Kuhns, VL, Li, Y, Wuttke, M, Kirsten, H et al.. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nat Genet. 2019;51 (10):1459-1474. doi: 10.1038/s41588-019-0504-x. PubMed PMID:31578528 PubMed Central PMC6858555.
  36. Raulerson, CK, Ko, A, Kidd, JC, Currin, KW, Brotman, SM, Cannon, ME et al.. Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits. Am J Hum Genet. 2019;105 (4):773-787. doi: 10.1016/j.ajhg.2019.09.001. PubMed PMID:31564431 PubMed Central PMC6817527.
  37. Spracklen, CN, Karaderi, T, Yaghootkar, H, Schurmann, C, Fine, RS, Kutalik, Z et al.. Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. Am J Hum Genet. 2019;105 (3):670-671. doi: 10.1016/j.ajhg.2019.08.001. PubMed PMID:31491410 PubMed Central PMC6732522.
  38. Spracklen, CN, Karaderi, T, Yaghootkar, H, Schurmann, C, Fine, RS, Kutalik, Z et al.. Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. Am J Hum Genet. 2019;105 (1):15-28. doi: 10.1016/j.ajhg.2019.05.002. PubMed PMID:31178129 PubMed Central PMC6612516.
  39. Wuttke, M, Li, Y, Li, M, Sieber, KB, Feitosa, MF, Gorski, M et al.. A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nat Genet. 2019;51 (6):957-972. doi: 10.1038/s41588-019-0407-x. PubMed PMID:31152163 PubMed Central PMC6698888.
  40. Zhong, W, Spracklen, CN, Mohlke, KL, Zheng, X, Fine, J, Li, Y et al.. Multi-SNP mediation intersection-union test. Bioinformatics. 2019;35 (22):4724-4729. doi: 10.1093/bioinformatics/btz285. PubMed PMID:31099385 PubMed Central PMC6853702.
  41. Dagle, JM, Ryckman, KK, Spracklen, CN, Momany, AM, Cotten, CM, Levy, J et al.. Genetic variants associated with patent ductus arteriosus in extremely preterm infants. J Perinatol. 2019;39 (3):401-408. doi: 10.1038/s41372-018-0285-6. PubMed PMID:30518802 PubMed Central PMC6391165.
  42. Takeuchi, F, Akiyama, M, Matoba, N, Katsuya, T, Nakatochi, M, Tabara, Y et al.. Interethnic analyses of blood pressure loci in populations of East Asian and European descent. Nat Commun. 2018;9 (1):5052. doi: 10.1038/s41467-018-07345-0. PubMed PMID:30487518 PubMed Central PMC6261994.
  43. Spracklen, CN, Shi, J, Vadlamudi, S, Wu, Y, Zou, M, Raulerson, CK et al.. Identification and functional analysis of glycemic trait loci in the China Health and Nutrition Survey. PLoS Genet. 2018;14 (4):e1007275. doi: 10.1371/journal.pgen.1007275. PubMed PMID:29621232 PubMed Central PMC5886383.
  44. Spracklen, CN, Chen, P, Kim, YJ, Wang, X, Cai, H, Li, S et al.. Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. Hum Mol Genet. 2018;27 (6):1122. doi: 10.1093/hmg/ddx439. PubMed PMID:29351605 PubMed Central PMC6790552.
  45. Lu, X, Peloso, GM, Liu, DJ, Wu, Y, Zhang, H, Zhou, W et al.. Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease. Nat Genet. 2017;49 (12):1722-1730. doi: 10.1038/ng.3978. PubMed PMID:29083407 PubMed Central PMC5899829.
  46. Sobrin, L, Chong, YH, Fan, Q, Gan, A, Stanwyck, LK, Kaidonis, G et al.. Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study. Diabetes. 2017;66 (12):3130-3141. doi: 10.2337/db17-0398. PubMed PMID:28951389 PubMed Central PMC5697951.
  47. Spracklen, CN, Chen, P, Kim, YJ, Wang, X, Cai, H, Li, S et al.. Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. Hum Mol Genet. 2017;26 (9):1770-1784. doi: 10.1093/hmg/ddx062. PubMed PMID:28334899 PubMed Central PMC6075203.
  48. Spracklen, CN, Smith, CJ, Saftlas, AF, Triche, EW, Bjonnes, A, Keating, BJ et al.. Genetic predisposition to elevated levels of C-reactive protein is associated with a decreased risk for preeclampsia. Hypertens Pregnancy. 2017;36 (1):30-35. doi: 10.1080/10641955.2016.1223303. PubMed PMID:27657194 PubMed Central PMC5538572.
  49. Spracklen, CN, Ryckman, KK, Robinson, JG, Stefanick, ML, Sarto, GE, Anton, SD et al.. Low Birth Weight and Risk of Later-Life Physical Disability in Women. J Gerontol A Biol Sci Med Sci. 2017;72 (4):543-547. doi: 10.1093/gerona/glw134. PubMed PMID:27440911 PubMed Central PMC6075587.
  50. Donovan, BM, Spracklen, CN, Schweizer, ML, Ryckman, KK, Saftlas, AF. Intimate partner violence during pregnancy and the risk for adverse infant outcomes: a systematic review and meta-analysis. BJOG. 2016;123 (8):1289-99. doi: 10.1111/1471-0528.13928. PubMed PMID:26956568 .
  51. Spracklen, CN, Ryckman, KK, Triche, EW, Saftlas, AF. Physical Activity During Pregnancy and Subsequent Risk of Preeclampsia and Gestational Hypertension: A Case Control Study. Matern Child Health J. 2016;20 (6):1193-202. doi: 10.1007/s10995-016-1919-y. PubMed PMID:26910608 PubMed Central PMC5538351.
  52. Smith, CJ, Saftlas, AF, Spracklen, CN, Triche, EW, Bjonnes, A, Keating, B et al.. Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia. Am J Hypertens. 2016;29 (1):17-24. doi: 10.1093/ajh/hpv069. PubMed PMID:26002928 PubMed Central PMC4692983.
  53. Myers, HI, Spracklen, CN, Ryckman, KK, Murray, JC. A retrospective study of administration of vaccination for hepatitis B among newborn infants prior to hospital discharge at a midwestern tertiary care center. Vaccine. 2015;33 (20):2316-21. doi: 10.1016/j.vaccine.2015.03.053. PubMed PMID:25835577 PubMed Central PMC4630806.
  54. Saftlas, AF, Spracklen, CN, Ryckman, KK, Stockdale, CK, Penrose, K, Ault, K et al.. Influence of a loop electrosurgical excision procedure (LEEP) on levels of cytokines in cervical secretions. J Reprod Immunol. 2015;109 :74-83. doi: 10.1016/j.jri.2015.01.002. PubMed PMID:25721621 .
  55. Ryckman, KK, Spracklen, CN, Smith, CJ, Robinson, JG, Saftlas, AF. Maternal lipid levels during pregnancy and gestational diabetes: a systematic review and meta-analysis. BJOG. 2015;122 (5):643-51. doi: 10.1111/1471-0528.13261. PubMed PMID:25612005 .
  56. Spracklen, CN, Saftlas, AF, Triche, EW, Bjonnes, A, Keating, B, Saxena, R et al.. Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia. Am J Hypertens. 2015;28 (7):915-23. doi: 10.1093/ajh/hpu242. PubMed PMID:25523295 PubMed Central PMC4542907.
  57. Fuller, TD, Spracklen, CN, Ryckman, KK, Knake, LA, Busch, TD, Momany, AM et al.. Genetic variation in CYB5R3 is associated with methemoglobin levels in preterm infants receiving nitric oxide therapy. Pediatr Res. 2015;77 (3):472-6. doi: 10.1038/pr.2014.206. PubMed PMID:25521918 PubMed Central PMC4518542.
  58. Spracklen, CN, Wallace, RB, Sealy-Jefferson, S, Robinson, JG, Freudenheim, JL, Wellons, MF et al.. Birth weight and subsequent risk of cancer. Cancer Epidemiol. 2014;38 (5):538-43. doi: 10.1016/j.canep.2014.07.004. PubMed PMID:25096278 PubMed Central PMC4188724.
  59. Spracklen, CN, Smith, CJ, Saftlas, AF, Robinson, JG, Ryckman, KK. Maternal hyperlipidemia and the risk of preeclampsia: a meta-analysis. Am J Epidemiol. 2014;180 (4):346-58. doi: 10.1093/aje/kwu145. PubMed PMID:24989239 PubMed Central PMC4565654.
  60. Spracklen, CN, Ryckman, KK, Harland, K, Saftlas, AF. Effects of smoking and preeclampsia on birth weight for gestational age. J Matern Fetal Neonatal Med. 2015;28 (6):679-84. doi: 10.3109/14767058.2014.928853. PubMed PMID:24893615 PubMed Central PMC4631401.
  61. Ryckman, KK, Spracklen, CN, Dagle, JM, Murray, JC. Maternal factors and complications of preterm birth associated with neonatal thyroid stimulating hormone. J Pediatr Endocrinol Metab. 2014;27 (9-10):929-38. doi: 10.1515/jpem-2013-0366. PubMed PMID:24854527 PubMed Central PMC4260397.
  62. Ryckman, KK, Rillamas-Sun, E, Spracklen, CN, Wallace, RB, Garcia, L, Tylavsky, FA et al.. Ethnic differences in the relationship between birth weight and type 2 diabetes mellitus in postmenopausal women. Diabetes Metab. 2014;40 (5):379-85. doi: 10.1016/j.diabet.2014.03.003. PubMed PMID:24751988 PubMed Central PMC4638122.
  63. Sklavos, MM, Spracklen, CN, Saftlas, AF, Pinto, LA. Does loop electrosurgical excision procedure of the uterine cervix affect anti-Müllerian hormone levels?. Biomed Res Int. 2014;2014 :875438. doi: 10.1155/2014/875438. PubMed PMID:24707500 PubMed Central PMC3953513.
  64. Spracklen, CN, Harland, KK, Stegmann, BJ, Saftlas, AF. Authors' reply: cervical surgery for cervical intraepithelial neoplasia and prolonged time to conception of a live birth. BJOG. 2013;120 (13):1697-8. doi: 10.1111/1471-0528.12457. PubMed PMID:24588998 .
  65. Spracklen, AJ, Kelpsch, DJ, Chen, X, Spracklen, CN, Tootle, TL. Prostaglandins temporally regulate cytoplasmic actin bundle formation during Drosophila oogenesis. Mol Biol Cell. 2014;25 (3):397-411. doi: 10.1091/mbc.E13-07-0366. PubMed PMID:24284900 PubMed Central PMC3907279.
  66. Spracklen, CN, Harland, KK, Stegmann, BJ, Saftlas, AF. Cervical surgery for cervical intraepithelial neoplasia and prolonged time to conception of a live birth: a case-control study. BJOG. 2013;120 (8):960-5. doi: 10.1111/1471-0528.12209. PubMed PMID:23489374 PubMed Central PMC3691952.
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FROM bioRxiv

Cassandra N Spracklen, Momoko Horikoshi, Young Jin Kim, Kuang Lin, Fiona Bragg, Sanghoon Moon, et al.. Identification of type 2 diabetes loci in 433,540 East Asian individuals. https://www.biorxiv.org/content/10.1101/685172v1