Sunyaev Lab

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Publications

Selected Recent Papers

  1. Maury EA, Jones A, Seplyarskiy V, Nguyen TTL, Rosenbluh C, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Zhao S, Venkatesh S, Root E, Voloudakis G, Roussos P, Park PJ, Akbarian S, Brennand K, Reilly S, Lee EA, Sunyaev SR, Walsh CA, Chess A, Brain Somatic Mosaicism Network‡. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science. 2024 Oct 11;386(6718):217-224. doi: 10.1126/science.adq1456. Epub 2024 Oct 10.
    [PMID: 39388546] [DOI: 10.1126/science.adq1456]
  2. Seplyarskiy V, Koch EM, Lee DJ, Lichtman JS, Luan HH, Sunyaev SR. A mutation rate model at the basepair resolution identifies the mutagenic effect of polymerase III transcription. Nat Genet. 2023 Dec;55(12):2235-2242. doi: 10.1038/s41588-023-01562-0. Epub 2023 Nov 30.
    [PMID: 38036792] [DOI: 10.1038/s41588-023-01562-0]
  3. McGinty RJ, Sunyaev SR. Revisiting mutagenesis at non-B DNA motifs in the human genome. Nat Struct Mol Biol. 2023 Apr;30(4):417-424. doi: 10.1038/s41594-023-00936-6. Epub 2023 Mar 13.
    [PMID: 36914796] [PMCID: 10225297] [DOI: 10.1038/s41594-023-00936-6]
  4. Connally NJ, Nazeen S, Lee D, Shi H, Stamatoyannopoulos J, Chun S, Cotsapas C, Cassa CA, Sunyaev SR. The missing link between genetic association and regulatory function. Elife. 2022 Dec 14;11:e74970. doi: 10.7554/eLife.74970.
    [PMID: 36515579] [PMCID: 9842386] [DOI: 10.7554/eLife.74970]
  5. Seplyarskiy VB, Sunyaev S. The origin of human mutation in light of genomic data. Nat Rev Genet. 2021 Oct;22(10):672-686. doi: 10.1038/s41576-021-00376-2. Epub 2021 Jun 23.
    [PMID: 34163020] [DOI: 10.1038/s41576-021-00376-2]
  6. Koch EM, Sunyaev SR. Maintenance of Complex Trait Variation: Classic Theory and Modern Data. Front Genet. 2021 Nov 12;12:763363. doi: 10.3389/fgene.2021.763363. eCollection 2021.
    [PMID: 34868244] [PMCID: 8636146] [DOI: 10.3389/fgene.2021.763363]
  7. Seplyarskiy VB, Soldatov RA, Koch E, McGinty RJ, Goldmann JM, Hernandez RD, Barnes K, Correa A, Burchard EG, Ellinor PT, McGarvey ST, Mitchell BD, Vasan RS, Redline S, Silverman E, Weiss ST, Arnett DK, Blangero J, Boerwinkle E, He J, Montgomery C, Rao DC, Rotter JI, Taylor KD, Brody JA, Chen YI, de Las Fuentes L, Hwu C, Rich SS, Manichaikul AW, Mychaleckyj JC, Palmer ND, Smith JA, Kardia SLR, Peyser PA, Bielak LF, O'Connor TD, Emery LS, Gilissen C, Wong WSW, Kharchenko PV, Sunyaev S, TOPMed Population Genetics Working Group. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 Aug 27;373(6558):1030-1035. doi: 10.1126/science.aba7408. Epub 2021 Aug 12.
    [PMID: 34385354] [PMCID: 9217108] [DOI: 10.1126/science.aba7408]
  8. Radke DW, Sul JH, Balick DJ, Akle S, Green RC, Sunyaev SR, Alzheimer's Disease Neuroimaging Initiative. Purifying selection on noncoding deletions of human regulatory loci detected using their cellular pleiotropy. Genome Res. 2021 Jun;31(6):935-946. doi: 10.1101/gr.275263.121. Epub 2021 May 7.
    [PMID: 33963077] [PMCID: 8168579] [DOI: 10.1101/gr.275263.121]
  9. Dietlein F, Weghorn D, Taylor-Weiner A, Richters A, Reardon B, Liu D, Lander ES, Van Allen EM, Sunyaev SR. Identification of cancer driver genes based on nucleotide context. Nat Genet. 2020 Feb;52(2):208-218. doi: 10.1038/s41588-019-0572-y. Epub 2020 Feb 3.
    [PMID: 32015527] [PMCID: 7031046] [DOI: 10.1038/s41588-019-0572-y]
  10. Chun S, Imakaev M, Hui D, Patsopoulos NA, Neale BM, Kathiresan S, Stitziel NO, Sunyaev SR. Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics. Am J Hum Genet. 2020 Jul 2;107(1):46-59. doi: 10.1016/j.ajhg.2020.05.004. Epub 2020 May 28.
    [PMID: 32470373] [PMCID: 7332650] [DOI: 10.1016/j.ajhg.2020.05.004]
  11. Weghorn D, Balick DJ, Cassa C, Kosmicki JA, Daly MJ, Beier DR, Sunyaev SR. Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans. Mol Biol Evol. 2019 Aug 1;36(8):1701-1710. doi: 10.1093/molbev/msz092.
    [PMID: 31004148] [PMCID: 6738481] [DOI: 10.1093/molbev/msz092]
  12. Sohail M, Maier RM, Ganna A, Bloemendal A, Martin AR, Turchin MC, Chiang CW, Hirschhorn J, Daly MJ, Patterson N, Neale B, Mathieson I, Reich D, Sunyaev SR. Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies. Elife. 2019 Mar 21;8:e39702. doi: 10.7554/eLife.39702.
    [PMID: 30895926] [PMCID: 6428571] [DOI: 10.7554/eLife.39702]
  13. Seplyarskiy VB, Akkuratov EE, Akkuratova N, Andrianova MA, Nikolaev SI, Bazykin GA, Adameyko I, Sunyaev SR. Error-prone bypass of DNA lesions during lagging-strand replication is a common source of germline and cancer mutations. Nat Genet. 2019 Jan;51(1):36-41. doi: 10.1038/s41588-018-0285-7. Epub 2018 Dec 3.
    [PMID: 30510240] [PMCID: 6317876] [DOI: 10.1038/s41588-018-0285-7]
  14. Weghorn D, Sunyaev S. Bayesian inference of negative and positive selection in human cancers. Nat Genet. 2017 Dec;49(12):1785-1788. doi: 10.1038/ng.3987. Epub 2017 Nov 6.
    [PMID: 29106416] [DOI: 10.1038/ng.3987]
  15. Sohail M, Vakhrusheva OA, Sul JH, Pulit SL, Francioli LC, van den Berg LH, Veldink JH, de Bakker PIW, Bazykin GA, Kondrashov AS, Sunyaev SR, Alzheimer’s Disease Neuroimaging Initiative. Negative selection in humans and fruit flies involves synergistic epistasis. Science. 2017 May 5;356(6337):539-542. doi: 10.1126/science.aah5238.
    [PMID: 28473589] [PMCID: 6200135] [DOI: 10.1126/science.aah5238]
  16. Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D, Samocha KE, O'Donnell-Luria A, MacArthur DG, Daly MJ, Beier DR, Sunyaev SR. Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet. 2017 May;49(5):806-810. doi: 10.1038/ng.3831. Epub 2017 Apr 3.
    [PMID: 28369035] [PMCID: 5618255] [DOI: 10.1038/ng.3831]
  17. Chun S, Casparino A, Patsopoulos NA, Croteau-Chonka DC, Raby BA, De Jager PL, Sunyaev SR, Cotsapas C. Limited statistical evidence for shared genetic effects of eQTLs and autoimmune-disease-associated loci in three major immune-cell types. Nat Genet. 2017 Apr;49(4):600-605. doi: 10.1038/ng.3795. Epub 2017 Feb 20.
    [PMID: 28218759] [PMCID: 5374036] [DOI: 10.1038/ng.3795]
  18. Polak P, Karlić R, Koren A, Thurman R, Sandstrom R, Lawrence M, Reynolds A, Rynes E, Vlahoviček K, Stamatoyannopoulos JA, Sunyaev SR. Cell-of-origin chromatin organization shapes the mutational landscape of cancer. Nature. 2015 Feb 19;518(7539):360-364. doi: 10.1038/nature14221.
    [PMID: 25693567] [PMCID: 4405175] [DOI: 10.1038/nature14221]
  19. Francioli LC, Polak PP, Koren A, Menelaou A, Chun S, Renkens I, van Duijn CM, Swertz M, Wijmenga C, van Ommen G, Slagboom PE, Boomsma DI, Ye K, Guryev V, Arndt PF, Kloosterman WP, de Bakker PIW, Sunyaev SR, Genome of the Netherlands Consortium. Genome-wide patterns and properties of de novo mutations in humans. Nat Genet. 2015 Jul;47(7):822-826. doi: 10.1038/ng.3292. Epub 2015 May 18.
    [PMID: 25985141] [PMCID: 4485564] [DOI: 10.1038/ng.3292]
  20. Balick DJ, Do R, Cassa CA, Reich D, Sunyaev SR. Dominance of Deleterious Alleles Controls the Response to a Population Bottleneck. PLoS Genet. 2015 Aug 28;11(8):e1005436. doi: 10.1371/journal.pgen.1005436. eCollection 2015 Aug.
    [PMID: 26317225] [PMCID: 4552954] [DOI: 10.1371/journal.pgen.1005436]
  21. Jordan DM, Frangakis SG, Golzio C, Cassa CA, Kurtzberg J, Davis EE, Sunyaev SR, Katsanis N, Task Force for Neonatal Genomics. Identification of cis-suppression of human disease mutations by comparative genomics. Nature. 2015 Aug 13;524(7564):225-9. doi: 10.1038/nature14497. Epub 2015 Jun 29.
    [PMID: 26123021] [PMCID: 4537371] [DOI: 10.1038/nature14497]

Other Papers

  1. Yu T, Fife JD, Bhat V, Adzhubey I, Sherwood R, Cassa CA. FUSE: Improving the estimation and imputation of variant impacts in functional screening. Cell Genom. 2024 Oct 9;4(10):100667. doi: 10.1016/j.xgen.2024.100667.
    [PMID: 39389016] [DOI: 10.1016/j.xgen.2024.100667]
  2. Lincoln MR, Connally N, Axisa P, Gasperi C, Mitrovic M, van Heel D, Wijmenga C, Withoff S, Jonkers IH, Padyukov L, Rich SS, Graham RR, Gaffney PM, Langefeld CD, Vyse TJ, Hafler DA, Chun S, Sunyaev SR, Cotsapas C, International Multiple Sclerosis Genetics Consortium. Genetic mapping across autoimmune diseases reveals shared associations and mechanisms. Nat Genet. 2024 May;56(5):838-845. doi: 10.1038/s41588-024-01732-8. Epub 2024 May 13.
    [PMID: 38741015] [DOI: 10.1038/s41588-024-01732-8]
  3. Bendapudi PK, Nazeen S, Ryu J, Söylemez O, Robbins A, Rouaisnel B, O'Neil JK, Pokhriyal R, Yang M, Colling M, Pasko B, Bouzinier M, Tomczak L, Collier L, Barrios D, Ram S, Toth-Petroczy A, Krier J, Fieg E, Dzik WH, Hudspeth JC, Pozdnyakova O, Nardi V, Knight J, Maas R, Sunyaev S, Losman J. Low-frequency inherited complement receptor variants are associated with purpura fulminans. Blood. 2024 Mar 14;143(11):1032-1044. doi: 10.1182/blood.2023021231.
    [PMID: 38096369] [PMCID: 10950473] [DOI: 10.1182/blood.2023021231]
  4. Critical Assessment of Genome Interpretation Consortium. CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6.
    [PMID: 38389099] [PMCID: 10882881] [DOI: 10.1186/s13059-023-03113-6]
  5. Fazal S, Danzi MC, Xu I, Kobren SN, Sunyaev S, Reuter C, Marwaha S, Wheeler M, Dolzhenko E, Lucas F, Wuchty S, Tekin M, Züchner S, Aguiar-Pulido V. RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci. Genome Biol. 2024 Jan 31;25(1):39. doi: 10.1186/s13059-024-03171-4.
    [PMID: 38297326] [PMCID: 10832122] [DOI: 10.1186/s13059-024-03171-4]
  6. Danilov SM, Adzhubei IA, Kozuch AJ, Petukhov PA, Popova IA, Choudhury A, Sengupta D, Dudek SM. Carriers of Heterozygous Loss-of-Function ACE Mutations Are at Risk for Alzheimer's Disease. Biomedicines. 2024 Jan 12;12(1):162. doi: 10.3390/biomedicines12010162.
    [PMID: 38255267] [PMCID: 10813023] [DOI: 10.3390/biomedicines12010162]
  7. Gao H, Hamp T, Ede J, Schraiber JG, McRae J, Singer-Berk M, Yang Y, Dietrich ASD, Fiziev PP, Kuderna LFK, Sundaram L, Wu Y, Adhikari A, Field Y, Chen C, Batzoglou S, Aguet F, Lemire G, Reimers R, Balick D, Janiak MC, Kuhlwilm M, Orkin JD, Manu S, Valenzuela A, Bergman J, Rousselle M, Silva FE, Agueda L, Blanc J, Gut M, de Vries D, Goodhead I, Harris RA, Raveendran M, Jensen A, Chuma IS, Horvath JE, Hvilsom C, Juan D, Frandsen P, de Melo FR, Bertuol F, Byrne H, Sampaio I, Farias I, do Amaral JV, Messias M, da Silva MNF, Trivedi M, Rossi R, Hrbek T, Andriaholinirina N, Rabarivola CJ, Zaramody A, Jolly CJ, Phillips-Conroy J, Wilkerson G, Abee C, Simmons JH, Fernandez-Duque E, Kanthaswamy S, Shiferaw F, Wu D, Zhou L, Shao Y, Zhang G, Keyyu JD, Knauf S, Le MD, Lizano E, Merker S, Navarro A, Bataillon T, Nadler T, Khor CC, Lee J, Tan P, Lim WK, Kitchener AC, Zinner D, Gut I, Melin A, Guschanski K, Schierup MH, Beck RMD, Umapathy G, Roos C, Boubli JP, Lek M, Sunyaev S, O'Donnell-Luria A, Rehm HL, Xu J, Rogers J, Marques-Bonet T, Farh KK. The landscape of tolerated genetic variation in humans and primates. Science. 2023 Jun 2;380(6648):eabn8153. doi: 10.1126/science.abn8197. Epub 2023 Jun 2.
    [PMID: 37262156] [PMCID: 10713091] [DOI: 10.1126/science.abn8197]
  8. Jain N, Richter F, Adzhubei I, Sharp AJ, Gelb BD. Small open reading frames: a comparative genetics approach to validation. BMC Genomics. 2023 May 1;24(1):226. doi: 10.1186/s12864-023-09311-7.
    [PMID: 37127568] [PMCID: 10152738] [DOI: 10.1186/s12864-023-09311-7]
  9. Luppino F, Adzhubei IA, Cassa CA, Toth-Petroczy A. DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features. Nat Commun. 2023 Apr 19;14(1):2230. doi: 10.1038/s41467-023-37661-z.
    [PMID: 37076482] [PMCID: 10115847] [DOI: 10.1038/s41467-023-37661-z]
  10. Wakeley J, Fan WL, Koch E, Sunyaev S. Recurrent mutation in the ancestry of a rare variant. Genetics. 2023 Jul 6;224(3):iyad049. doi: 10.1093/genetics/iyad049.
    [PMID: 36967220] [PMCID: 10324944] [DOI: 10.1093/genetics/iyad049]
  11. Bhat V, Adzhubei IA, Fife JD, Lebo M, Cassa CA. Informing variant assessment using structured evidence from prior classifications (PS1, PM5, and PVS1 sequence variant interpretation criteria). Genet Med. 2023 Jan;25(1):16-26. doi: 10.1016/j.gim.2022.09.009. Epub 2022 Oct 28.
    [PMID: 36305854] [PMCID: 10223563] [DOI: 10.1016/j.gim.2022.09.009]
  12. Zhou H, Arapoglou T, Li X, Li Z, Zheng X, Moore J, Asok A, Kumar S, Blue EE, Buyske S, Cox N, Felsenfeld A, Gerstein M, Kenny E, Li B, Matise T, Philippakis A, Rehm HL, Sofia HJ, Snyder G, Weng Z, Neale B, Sunyaev SR, Lin X, NHGRI Genome Sequencing Program Variant Functional Annotation Working Group. FAVOR: functional annotation of variants online resource and annotator for variation across the human genome. Nucleic Acids Res. 2023 Jan 6;51(D1):D1300-D1311. doi: 10.1093/nar/gkac966.
    [PMID: 36350676] [PMCID: 9825437] [DOI: 10.1093/nar/gkac966]
  13. Chun S, Akle S, Teodosiadis A, Cade BE, Wang H, Sofer T, Evans DS, Stone KL, Gharib SA, Mukherjee S, Palmer LJ, Hillman D, Rotter JI, Hanis CL, Stamatoyannopoulos JA, Redline S, Cotsapas C, Sunyaev SR. Leveraging pleiotropy to discover and interpret GWAS results for sleep-associated traits. PLoS Genet. 2022 Dec 27;18(12):e1010557. doi: 10.1371/journal.pgen.1010557. eCollection 2022 Dec.
    [PMID: 36574455] [PMCID: 9829185] [DOI: 10.1371/journal.pgen.1010557]     [data]
  14. Bouzinier MA, Etin D, Trifonov SI, Evdokimova VN, Ulitin V, Shen J, Kokorev A, Ghazani AA, Chekaluk Y, Albertyn Z, Giersch A, Morton CC, Abraamyan F, Bendapudi PK, Sunyaev S, Undiagnosed D, Brigham G, SEQuencing A, Quantori , Krier JB. AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease. J Biomed Inform. 2022 Sep;133:104174. doi: 10.1016/j.jbi.2022.104174. Epub 2022 Aug 23.
    [PMID: 35998814] [DOI: 10.1016/j.jbi.2022.104174]
  15. Koch EM, Du J, Dressner M, Alwasti HE, Al Taif Z, Shehab F, Mohamed AM, Ghanem A, Alhajeri A, Alawadhi A, Almoamen N, Ashoor K, Hasan S, Haghighi A, Sunyaev S, Farhat M. Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations. medRxiv [Preprint]. 2023 Oct 12:2022.08.13.22278740. doi: 10.1101/2022.08.13.22278740.
    [PMID: 36032980] [PMCID: 9413726] [DOI: 10.1101/2022.08.13.22278740]
  16. Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj L, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U, Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME, Estonian Biobank Research Team. A cross-disorder dosage sensitivity map of the human genome. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1.
    [PMID: 35917817] [PMCID: 9742861] [DOI: 10.1016/j.cell.2022.06.036]
  17. Hallacli E, Kayatekin C, Nazeen S, Wang XH, Sheinkopf Z, Sathyakumar S, Sarkar S, Jiang X, Dong X, Di Maio R, Wang W, Keeney MT, Felsky D, Sandoe J, Vahdatshoar A, Udeshi ND, Mani DR, Carr SA, Lindquist S, De Jager PL, Bartel DP, Myers CL, Greenamyre JT, Feany MB, Sunyaev SR, Chung CY, Khurana V. The Parkinson's disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability. Cell. 2022 Jun 9;185(12):2035-2056.e33. doi: 10.1016/j.cell.2022.05.008.
    [PMID: 35688132] [PMCID: 9394447] [DOI: 10.1016/j.cell.2022.05.008]
  18. Dietlein F, Wang AB, Fagre C, Tang A, Besselink NJM, Cuppen E, Li C, Sunyaev SR, Neal JT, Van Allen EM. Genome-wide analysis of somatic noncoding mutation patterns in cancer. Science. 2022 Apr 8;376(6589):eabg5601. doi: 10.1126/science.abg5601. Epub 2022 Apr 8.
    [PMID: 35389777] [PMCID: 9092060] [DOI: 10.1126/science.abg5601]
  19. Sharo AG, Hu Z, Sunyaev SR, Brenner SE. StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants. Am J Hum Genet. 2022 Feb 3;109(2):195-209. doi: 10.1016/j.ajhg.2021.12.007. Epub 2022 Jan 14.
    [PMID: 35032432] [PMCID: 8874149] [DOI: 10.1016/j.ajhg.2021.12.007]
  20. Balick DJ, Jordan DM, Sunyaev S, Do R. Overcoming constraints on the detection of recessive selection in human genes from population frequency data. Am J Hum Genet. 2022 Jan 6;109(1):33-49. doi: 10.1016/j.ajhg.2021.12.001. Epub 2021 Dec 23.
    [PMID: 34951958] [PMCID: 8764206] [DOI: 10.1016/j.ajhg.2021.12.001]
  21. Seplyarskiy VB, Sunyaev S. Author Correction: The origin of human mutation in light of genomic data. Nat Rev Genet. 2021 Oct;22(10):687. doi: 10.1038/s41576-021-00410-3.
    [PMID: 34376821] [DOI: 10.1038/s41576-021-00410-3]
  22. Mendelevich A, Vinogradova S, Gupta S, Mironov AA, Sunyaev SR, Gimelbrant AA. Replicate sequencing libraries are important for quantification of allelic imbalance. Nat Commun. 2021 Jun 7;12(1):3370. doi: 10.1038/s41467-021-23544-8.
    [PMID: 34099647] [PMCID: 8184992] [DOI: 10.1038/s41467-021-23544-8]
  23. Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ, Sunyaev SR, Kohane IS, Undiagnosed Diseases Network. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12.
    [PMID: 33580225] [PMCID: 8187147] [DOI: 10.1038/s41436-020-01084-8]
  24. Takou M, Hämälä T, Koch EM, Steige KA, Dittberner H, Yant L, Genete M, Sunyaev S, Castric V, Vekemans X, Savolainen O, Meaux Jd. Maintenance of Adaptive Dynamics and No Detectable Load in a Range-Edge Outcrossing Plant Population. Mol Biol Evol. 2021 May 4;38(5):1820-1836. doi: 10.1093/molbev/msaa322.
    [PMID: 33480994] [PMCID: 8097302] [DOI: 10.1093/molbev/msaa322]
  25. Gasperi C, Chun S, Sunyaev SR, Cotsapas C. Shared associations identify causal relationships between gene expression and immune cell phenotypes. Commun Biol. 2021 Mar 4;4(1):279. doi: 10.1038/s42003-021-01823-w.
    [PMID: 33664438] [PMCID: 7933159] [DOI: 10.1038/s42003-021-01823-w]
  26. Shi H, Gazal S, Kanai M, Koch EM, Schoech AP, Siewert KM, Kim SS, Luo Y, Amariuta T, Huang H, Okada Y, Raychaudhuri S, Sunyaev SR, Price AL. Population-specific causal disease effect sizes in functionally important regions impacted by selection. Nat Commun. 2021 Feb 17;12(1):1098. doi: 10.1038/s41467-021-21286-1.
    [PMID: 33597505] [PMCID: 7889654] [DOI: 10.1038/s41467-021-21286-1]
  27. Wieters B, Steige KA, He F, Koch EM, Ramos-Onsins SE, Gu H, Guo Y, Sunyaev S, de Meaux J. Polygenic adaptation of rosette growth in Arabidopsis thaliana. PLoS Genet. 2021 Jan 25;17(1):e1008748. doi: 10.1371/journal.pgen.1008748. eCollection 2021 Jan.
    [PMID: 33493157] [PMCID: 7861555] [DOI: 10.1371/journal.pgen.1008748]
  28. Kousi M, Söylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Muller J, Cassa CA, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K, Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nat Genet. 2020 Nov;52(11):1145-1150. doi: 10.1038/s41588-020-0707-1. Epub 2020 Oct 12.
    [PMID: 33046855] [PMCID: 8272915] [DOI: 10.1038/s41588-020-0707-1]
  29. Li X, Li Z, Zhou H, Gaynor SM, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Aslibekyan S, Ballantyne CM, Bielak LF, Blangero J, Boerwinkle E, Bowden DW, Broome JG, Conomos MP, Correa A, Cupples LA, Curran JE, Freedman BI, Guo X, Hindy G, Irvin MR, Kardia SLR, Kathiresan S, Khan AT, Kooperberg CL, Laurie CC, Liu XS, Mahaney MC, Manichaikul AW, Martin LW, Mathias RA, McGarvey ST, Mitchell BD, Montasser ME, Moore JE, Morrison AC, O'Connell JR, Palmer ND, Pampana A, Peralta JM, Peyser PA, Psaty BM, Redline S, Rice KM, Rich SS, Smith JA, Tiwari HK, Tsai MY, Vasan RS, Wang FF, Weeks DE, Weng Z, Wilson JG, Yanek LR, Neale BM, Sunyaev SR, Abecasis GR, Rotter JI, Willer CJ, Peloso GM, Natarajan P, Lin X, TOPMed Lipids Working Group. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet. 2020 Sep;52(9):969-983. doi: 10.1038/s41588-020-0676-4. Epub 2020 Aug 24.
    [PMID: 32839606] [PMCID: 7483769] [DOI: 10.1038/s41588-020-0676-4]
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