Lynn B. Jorde, Ph.D.

Our laboratory has long been involved in studies of human genetic variation and disease. We realized the advantages of Utah’s large families for disease-gene identification, and we have carried out studies of human limb malformations, autism, hypertension, juvenile idiopathic arthritis, preterm birth, inflammatory bowel disease, amyotrophic lateral sclerosis, and a number of other Mendelian and common, complex diseases.  Twelve years ago, we published an analysis of the first whole-genome sequences (WGS) of a complete human family (Roach et al., 2010, Science).  These data allowed us to directly estimate, for the first time, the intergenerational human mutation rate.  We have continued our research on the dynamics of human mutations, having recently sequenced more than 600 members of the three-generation Utah CEPH pedigrees. A decade ago, we became interested in high-altitude adaptation and disease in Tibetan populations and, in a project led by one of our lab's graduate students, published the first discoveries of natural selection on genes in the hypoxia-inducible factor pathway (Simonson et al., 2010, Science).  For more than 20 years, we have carried out NIH-funded research on the evolution of mobile elements and their effects on the genome.

Al-Agha AE, Ahmed IA, Nuebel E, Moriwaki M, Moore B, Peacock KA, Mosbruger T, Neklason DW, Jorde LB, Yandell M, Welt CK. 2018. Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. J Clin Endocrinol Metab 103: 555-563.

Booth JN, III, Li M, Shimbo D, Hess R, Irvin MR, Kittles R, Wilson JG, Jorde LB, Cheung AK, Lange LA, Lange EM, Yano Y, Muntner P, Bress AP. 2018. West African Ancestry and Nocturnal Blood Pressure in African Americans: The Jackson Heart Study. Am J Hypertens 31: 706-714.

Chen JS, Hu F, Kugathasan S, Jorde LB, Nix D, Rutherford A, Denson L, Watkins WS, Prahalad S, Huff C, Guthery SL. 2018. Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability. G3 (Bethesda) 8: 2881-2888.

Manuck TA, Watkins WS, Esplin MS, Biggio J, Bukowski R, Parry S, Zhan H, Huang H, Andrews W, Saade G, Sadovsky Y, Reddy UM, Ilekis J, Yandell M, Varner MW, Jorde LB. 2018. Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth: a case-control study. BJOG : an international journal of obstetrics and gynaecology 125: 343-350.

Flygare S, Hernandez EJ, Phan L, Moore B, Li M, Fejes A, Hu H, Eilbeck K, Huff C, Jorde L, M GR, Yandell M. 2018. The VAAST Variant Prioritizer (VVP): ultrafast, easy to use whole genome variant prioritization tool. BMC Bioinformatics 19: 57.

Feusier J, Watkins WS, Thomas J, Farrell A, Witherspoon DJ, Baird L, Ha H, Xing J, Jorde LB. 2019. Pedigree-based estimation of human mobile element retrotransposition rates. Genome Res 29: 1567-1577.

Gao Z, Moorjani P, Sasani TA, Pedersen BS, Quinlan AR, Jorde LB, Amster G, Przeworski M. 2019. Overlooked roles of DNA damage and maternal age in generating human germline mutations. Proc Natl Acad Sci U S A 116: 9491-9500.

Periyasamy S, John S, Padmavati R, Rajendren P, Thirunavukkarasu P, Gratten J, Vinkhuyzen A, McRae A, Holliday EG, Nyholt DR, Nancarrow D, Bakshi A, Hemani G, Nertney D, Smith H, Filippich C, Patel K, Fowdar J, McLean D, Tirupati S, Nagasundaram A, Gundugurti PR, Selvaraj K, Jegadeesan J, Jorde LB, Wray NR, Brown MA, Suetani R, Giacomotto J, Thara R, Mowry BJ. 2019. Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. JAMA psychiatry doi:10.1001/jamapsychiatry.2019.1335.

Sasani TA, Pedersen BS, Gao Z, Baird L, Przeworski M, Jorde LB, Quinlan AR. 2019. Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation. Elife 8.

Goubert C, Thomas J, Payer LM, Kidd JM, Feusier J, Watkins WS, Burns KH, Jorde LB, Feschotte C. 2020. TypeTE: a tool to genotype mobile element insertions from whole genome resequencing data. Nucleic Acids Res 48: E36.

Jorde LB, Bamshad MJ. 2020. Genetic Ancestry Testing: What Is It and Why Is It Important? JAMA323(11): 1089-1090.

Cawthon RM, Meeks HD, Sasani TA, Smith KR, Kerber RA, O'Brien E, Baird L, Dixon MM, Peiffer A, Leppert MF, Quinlan AR, Jorde LB. 2020. Germline mutation rates in young adults predict longevity and reproductive lifespan. Sci Rep 10: 10001.

Jorde LB, Carey JC, Bamshad MJ. 2020. Medical Genetics (6th Ed.). Elsevier, Philadelphia.

Van Tassell JC, Shimbo D, Hess R, Kittles R, Wilson JG, Jorde LB, Li M, Lange LA, Lange EM, Muntner P, Bress AP. 2020. Association of West African ancestry and blood pressure control among African Americans taking antihypertensive medication in the Jackson Heart Study. J Clin Hypertens (Greenwich) 22: 157-166.

Watkins WS, Feusier JE, Thomas J, Goubert C, Mallick S, Jorde LB. 2020. The Simons Genome Diversity Project: A Global Analysis of Mobile Element Diversity. Genome Biol Evol 12: 779-794.

Belyeu JR, Brand H, Wang H, Zhao X, Pedersen BS, Feusier J, Gupta M, Nicholas TJ, Brown J, Baird L, Devlin B, Sanders SJ, Jorde LB, Talkowski ME, Quinlan AR. 2021. De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families. Am J Hum Genet108: 597-607.

Feusier JE, Arunachalam S, Tashi T, Baker MJ, VanSant-Webb C, Ferdig A, Welm BE, Rodriguez-Flores JL, Ours C, Jorde LB, Prchal JT, Mason CC. 2021. Large-Scale Identification of Clonal Hematopoiesis and Mutations Recurrent in Blood Cancers. Blood Cancer Discov 2: 226-237.

Russell KL, Downie JM, Gibson SB, Tsetsou S, Keefe MD, Duran JA, Figueroa KP, Bromberg MB, Murtaugh LC, Bonkowsky JL, Pulst SM, Jorde LB. 2021. Pathogenic effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis. Neurology 97: e225-235.

Steely CJ, Russell KL, Feusier JE, Qiao Y, Tavtigian SV, Marth G, Jorde LB. 2021. Mobile element insertions and associated structural variants in longitudinal breast cancer samples. Sci Rep 11: 13020.

Workalemahu T, Page JM, Meeks H, Yu Z, Guinto E, Fraser A, Varner MW, Theilen LH, Quinlan A, Coon H, Enquobahrie DA, Ananth CV, Tekola-Ayele F, Jorde LB, Silver RM. 2022. Familial aggregation of stillbirth: A pedigree analysis of a matched case-control study. BJOG : an international journal of obstetrics and gynaecology doi:10.1111/1471-0528.17301.