{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T15:58:51Z","timestamp":1793289531587,"version":"4.5.0"},"reference-count":56,"publisher":"National Academy of Sciences","issue":"19","license":[{"start":{"date-parts":[[2018,10,23]],"date-time":"2018-10-23T00:00:00Z","timestamp":1540252800000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/www.pnas.org\/site\/aboutpnas\/licenses.xhtml"}],"funder":[{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["R01HG002385"],"award-info":[{"award-number":["R01HG002385"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["U41HG007635"],"award-info":[{"award-number":["U41HG007635"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"Department of Health | National Health and Medical Research Council","doi-asserted-by":"publisher","award":["1073726"],"award-info":[{"award-number":["1073726"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"Department of Health | National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1138585"],"award-info":[{"award-number":["APP1138585"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["R01-EY013435"],"award-info":[{"award-number":["R01-EY013435"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["P30-EY019007"],"award-info":[{"award-number":["P30-EY019007"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000011","name":"Howard Hughes Medical Institute","doi-asserted-by":"publisher","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}],"id":[{"id":"10.13039\/100000011","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2018,5,8]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Genetic variation of the complement factor H (\n                    <jats:italic>CFH<\/jats:italic>\n                    ) gene family is associated with several complex diseases. Here, we have performed both long- and short-read sequencing of multiple humans and nonhuman primates in an effort to understand its complex evolutionary history. We find that this locus has evolved predominantly through incomplete segmental duplication and identify recurrent reuse of donor and acceptor duplications leading to\n                    <jats:italic>CFHR<\/jats:italic>\n                    fusion genes with diverse functions. Investigation of a large cohort of patients with age-related macular degeneration revealed multiple structural variation breakpoints and mutational burdens that cluster in specific domains of the CFH protein. These domains overlap sites showing signatures of natural selection, providing strong evidence for the shared role of selective pressure on diversity and disease.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1717600115","type":"journal-article","created":{"date-parts":[[2018,4,23]],"date-time":"2018-04-23T15:10:38Z","timestamp":1524496238000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":60,"title":["Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (\n                    <i>CFH<\/i>\n                    ) gene family"],"prefix":"10.1073","volume":"115","author":[{"given":"Stuart","family":"Cantsilieris","sequence":"first","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bradley J.","family":"Nelson","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Huddleston","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"},{"name":"Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl","family":"Baker","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lana","family":"Harshman","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelsi","family":"Penewit","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine M.","family":"Munson","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1525-9707","authenticated-orcid":false,"given":"Melanie","family":"Sorensen","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AnneMarie E.","family":"Welch","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vy","family":"Dang","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Grassmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea J.","family":"Richardson","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia, Department of Surgery (Ophthalmology), University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC 3002, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robyn H.","family":"Guymer","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia, Department of Surgery (Ophthalmology), University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC 3002, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina A.","family":"Graves-Lindsay","sequence":"additional","affiliation":[{"name":"McDonnell Genome Institute at Washington University, St. Louis, MO 63108;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard K.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Institute for Genomic Medicine, Nationwide Children\u2019s Hospital, Columbus, OH 43205;"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 93053;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8808-7723","authenticated-orcid":false,"given":"Bernhard H. F.","family":"Weber","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul N.","family":"Baird","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia, Department of Surgery (Ophthalmology), University of Melbourne, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC 3002, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rando","family":"Allikmets","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Columbia University, New York, NY 10027;"},{"name":"Department of Pathology and Cell Biology, Columbia University, New York, NY 10027"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8246-4014","authenticated-orcid":false,"given":"Evan E.","family":"Eichler","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195;"},{"name":"Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2018,4,23]]},"reference":[{"key":"e_1_3_4_1_2","doi-asserted-by":"crossref","first-page":"7227","DOI":"10.1073\/pnas.0501536102","article-title":"A common haplotype in the complement regulatory gene factor H (HF1\/CFH) predisposes individuals to age-related macular degeneration","volume":"102","author":"Hageman GS","year":"2005","unstructured":"GS Hageman, , A common haplotype in the complement regulatory gene factor H (HF1\/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 102, 7227\u20137232 (2005).","journal-title":"Proc Natl Acad Sci USA"},{"key":"e_1_3_4_2_2","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1086\/302673","article-title":"Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome","volume":"65","author":"Ying L","year":"1999","unstructured":"L Ying, , Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet 65, 1538\u20131546 (1999).","journal-title":"Am J Hum Genet"},{"key":"e_1_3_4_3_2","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1126\/science.1110189","article-title":"Complement factor H polymorphism and age-related macular degeneration","volume":"308","author":"Edwards AO","year":"2005","unstructured":"AO Edwards, , Complement factor H polymorphism and age-related macular degeneration. Science 308, 421\u2013424 (2005).","journal-title":"Science"},{"key":"e_1_3_4_4_2","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1126\/science.1110359","article-title":"Complement factor H variant increases the risk of age-related macular degeneration","volume":"308","author":"Haines JL","year":"2005","unstructured":"JL Haines, , Complement factor H variant increases the risk of age-related macular degeneration. Science 308, 419\u2013421 (2005).","journal-title":"Science"},{"key":"e_1_3_4_5_2","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1126\/science.1109557","article-title":"Complement factor H polymorphism in age-related macular degeneration","volume":"308","author":"Klein RJ","year":"2005","unstructured":"RJ Klein, , Complement factor H polymorphism in age-related macular degeneration. Science 308, 385\u2013389 (2005).","journal-title":"Science"},{"key":"e_1_3_4_6_2","doi-asserted-by":"crossref","first-page":"e1002079","DOI":"10.1371\/journal.pgen.1002079","article-title":"Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility","volume":"7","author":"Zhao J","year":"2011","unstructured":"J Zhao, , Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility. PLoS Genet; BIOLUPUS Network; GENLES Network 7, e1002079 (2011).","journal-title":"PLoS Genet"},{"key":"e_1_3_4_7_2","doi-asserted-by":"crossref","first-page":"1232","DOI":"10.1038\/ng.976","article-title":"A rare penetrant mutation in CFH confers high risk of age-related macular degeneration","volume":"43","author":"Raychaudhuri S","year":"2011","unstructured":"S Raychaudhuri, , A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet 43, 1232\u20131236 (2011).","journal-title":"Nat Genet"},{"key":"e_1_3_4_8_2","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1038\/ng.2741","article-title":"Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration","volume":"45","author":"Seddon JM","year":"2013","unstructured":"JM Seddon, , Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet 45, 1366\u20131370 (2013).","journal-title":"Nat Genet"},{"key":"e_1_3_4_9_2","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/ng.2578","article-title":"Seven new loci associated with age-related macular degeneration","volume":"45","author":"Fritsche LG","year":"2013","unstructured":"LG Fritsche, , Seven new loci associated with age-related macular degeneration. Nat Genet; AMD Gene Consortium 45, 433\u2013439, 439e1\u2013439e2 (2013).","journal-title":"Nat Genet"},{"key":"e_1_3_4_10_2","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1038\/ng.3448","article-title":"A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants","volume":"48","author":"Fritsche LG","year":"2016","unstructured":"LG Fritsche, , A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet 48, 134\u2013143 (2016).","journal-title":"Nat Genet"},{"key":"e_1_3_4_11_2","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1086\/444437","article-title":"Susceptibility genes for age-related maculopathy on chromosome 10q26","volume":"77","author":"Jakobsdottir J","year":"2005","unstructured":"J Jakobsdottir, , Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet 77, 389\u2013407 (2005).","journal-title":"Am J Hum Genet"},{"key":"e_1_3_4_12_2","doi-asserted-by":"crossref","first-page":"3227","DOI":"10.1093\/hmg\/ddi353","article-title":"Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk","volume":"14","author":"Rivera A","year":"2005","unstructured":"A Rivera, , Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet 14, 3227\u20133236 (2005).","journal-title":"Hum Mol Genet"},{"key":"e_1_3_4_13_2","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.molimm.2004.02.005","article-title":"The human complement factor H: Functional roles, genetic variations and disease associations","volume":"41","author":"Rodr\u00edguez de C\u00f3rdoba S","year":"2004","unstructured":"S Rodr\u00edguez de C\u00f3rdoba, J Esparza-Gordillo, E Goicoechea de Jorge, M Lopez-Trascasa, P S\u00e1nchez-Corral, The human complement factor H: Functional roles, genetic variations and disease associations. Mol Immunol 41, 355\u2013367 (2004).","journal-title":"Mol Immunol"},{"key":"e_1_3_4_14_2","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/j.it.2008.04.008","article-title":"Factor H family proteins and human diseases","volume":"29","author":"J\u00f3zsi M","year":"2008","unstructured":"M J\u00f3zsi, PF Zipfel, Factor H family proteins and human diseases. Trends Immunol 29, 380\u2013387 (2008).","journal-title":"Trends Immunol"},{"key":"e_1_3_4_15_2","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1042\/bst0300971","article-title":"Factor H family proteins: On complement, microbes and human diseases","volume":"30","author":"Zipfel PF","year":"2002","unstructured":"PF Zipfel, , Factor H family proteins: On complement, microbes and human diseases. Biochem Soc Trans 30, 971\u2013978 (2002).","journal-title":"Biochem Soc Trans"},{"key":"e_1_3_4_16_2","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.molimm.2005.06.015","article-title":"Complement and diseases: Defective alternative pathway control results in kidney and eye diseases","volume":"43","author":"Zipfel PF","year":"2006","unstructured":"PF Zipfel, S Heinen, M J\u00f3zsi, C Skerka, Complement and diseases: Defective alternative pathway control results in kidney and eye diseases. Mol Immunol 43, 97\u2013106 (2006).","journal-title":"Mol Immunol"},{"key":"e_1_3_4_17_2","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1111\/j.1365-2249.2006.03071.x","article-title":"The C-terminus of complement regulator factor H mediates target recognition: Evidence for a compact conformation of the native protein","volume":"144","author":"Oppermann M","year":"2006","unstructured":"M Oppermann, , The C-terminus of complement regulator factor H mediates target recognition: Evidence for a compact conformation of the native protein. Clin Exp Immunol 144, 342\u2013352 (2006).","journal-title":"Clin Exp Immunol"},{"key":"e_1_3_4_18_2","doi-asserted-by":"crossref","first-page":"6308","DOI":"10.4049\/jimmunol.177.9.6308","article-title":"Critical role of the C-terminal domains of factor H in regulating complement activation at cell surfaces","volume":"177","author":"Ferreira VP","year":"2006","unstructured":"VP Ferreira, AP Herbert, HG Hocking, PN Barlow, MK Pangburn, Critical role of the C-terminal domains of factor H in regulating complement activation at cell surfaces. J Immunol 177, 6308\u20136316 (2006).","journal-title":"J Immunol"},{"key":"e_1_3_4_19_2","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/nature15394","article-title":"An integrated map of structural variation in 2,504 human genomes","volume":"526","author":"Sudmant PH","year":"2015","unstructured":"PH Sudmant, , An integrated map of structural variation in 2,504 human genomes. Nature; 1000 Genomes Project Consortium 526, 75\u201381 (2015).","journal-title":"Nature"},{"key":"e_1_3_4_20_2","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1126\/science.1197005","article-title":"Diversity of human copy number variation and multicopy genes","volume":"330","author":"Sudmant PH","year":"2010","unstructured":"PH Sudmant, , Diversity of human copy number variation and multicopy genes. Science; 1000 Genomes Project 330, 641\u2013646 (2010).","journal-title":"Science"},{"key":"e_1_3_4_21_2","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1080\/07853890601097030","article-title":"Extended haplotypes in the complement factor H (CFH) and CFH\u2010related (CFHR) family of genes protect against age\u2010related macular degeneration: Characterization, ethnic distribution and evolutionary implications","volume":"38","author":"Hageman GS","year":"2006","unstructured":"GS Hageman, , Extended haplotypes in the complement factor H (CFH) and CFH\u2010related (CFHR) family of genes protect against age\u2010related macular degeneration: Characterization, ethnic distribution and evolutionary implications. Ann Med 38, 592\u2013604 (2006).","journal-title":"Ann Med"},{"key":"e_1_3_4_22_2","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1038\/ng1890","article-title":"A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration","volume":"38","author":"Hughes AE","year":"2006","unstructured":"AE Hughes, , A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Nat Genet 38, 1173\u20131177 (2006).","journal-title":"Nat Genet"},{"key":"e_1_3_4_23_2","doi-asserted-by":"crossref","first-page":"e41","DOI":"10.1371\/journal.pgen.0030041","article-title":"Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome","volume":"3","author":"Zipfel PF","year":"2007","unstructured":"PF Zipfel, , Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. PLoS Genet 3, e41 (2007).","journal-title":"PLoS Genet"},{"key":"e_1_3_4_24_2","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1681\/ASN.2015010100","article-title":"A de novo deletion in the regulators of complement activation cluster producing a hybrid complement factor H\/complement factor H-related 3 gene in atypical hemolytic uremic syndrome","volume":"27","author":"Challis RC","year":"2016","unstructured":"RC Challis, , A de novo deletion in the regulators of complement activation cluster producing a hybrid complement factor H\/complement factor H-related 3 gene in atypical hemolytic uremic syndrome. J Am Soc Nephrol 27, 1617\u20131624 (2016).","journal-title":"J Am Soc Nephrol"},{"key":"e_1_3_4_25_2","doi-asserted-by":"crossref","first-page":"2221","DOI":"10.1007\/s00467-013-2560-2","article-title":"A novel hybrid CFHR1\/CFH gene causes atypical hemolytic uremic syndrome","volume":"28","author":"Eyler SJ","year":"2013","unstructured":"SJ Eyler, , A novel hybrid CFHR1\/CFH gene causes atypical hemolytic uremic syndrome. Pediatr Nephrol 28, 2221\u20132225 (2013).","journal-title":"Pediatr Nephrol"},{"key":"e_1_3_4_26_2","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1182\/blood-2011-03-339903","article-title":"A novel hybrid CFH\/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome","volume":"119","author":"Francis NJ","year":"2012","unstructured":"NJ Francis, , A novel hybrid CFH\/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome. Blood 119, 591\u2013601 (2012).","journal-title":"Blood"},{"key":"e_1_3_4_27_2","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1002\/humu.9408","article-title":"De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome","volume":"27","author":"Heinen S","year":"2006","unstructured":"S Heinen, , De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Hum Mutat 27, 292\u2013293 (2006).","journal-title":"Hum Mutat"},{"key":"e_1_3_4_28_2","doi-asserted-by":"crossref","first-page":"e78617","DOI":"10.1371\/journal.pone.0078617","article-title":"Human factor H-related protein 2 (CFHR2) regulates complement activation","volume":"8","author":"Eberhardt HU","year":"2013","unstructured":"HU Eberhardt, , Human factor H-related protein 2 (CFHR2) regulates complement activation. PLoS One 8, e78617 (2013).","journal-title":"PLoS One"},{"key":"e_1_3_4_29_2","doi-asserted-by":"crossref","first-page":"2439","DOI":"10.1182\/blood-2009-02-205641","article-title":"Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation","volume":"114","author":"Heinen S","year":"2009","unstructured":"S Heinen, , Factor H-related protein 1 (CFHR-1) inhibits complement C5 convertase activity and terminal complex formation. Blood 114, 2439\u20132447 (2009).","journal-title":"Blood"},{"key":"e_1_3_4_30_2","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1016\/j.cell.2012.03.033","article-title":"Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication","volume":"149","author":"Dennis MY","year":"2012","unstructured":"MY Dennis, , Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell 149, 912\u2013922 (2012).","journal-title":"Cell"},{"key":"e_1_3_4_31_2","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1101\/gr.188901","article-title":"Segmental duplications: What\u2019s missing, misassigned, and misassembled\u2013And should we care?","volume":"11","author":"Eichler EE","year":"2001","unstructured":"EE Eichler, Segmental duplications: What\u2019s missing, misassigned, and misassembled\u2013And should we care? Genome Res 11, 653\u2013656 (2001).","journal-title":"Genome Res"},{"key":"e_1_3_4_32_2","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1038\/nature13907","article-title":"Resolving the complexity of the human genome using single-molecule sequencing","volume":"517","author":"Chaisson MJP","year":"2015","unstructured":"MJP Chaisson, , Resolving the complexity of the human genome using single-molecule sequencing. Nature 517, 608\u2013611 (2015).","journal-title":"Nature"},{"key":"e_1_3_4_33_2","doi-asserted-by":"crossref","first-page":"aab3761","DOI":"10.1126\/science.aab3761","article-title":"Global diversity, population stratification, and selection of human copy-number variation","volume":"349","author":"Sudmant PH","year":"2015","unstructured":"PH Sudmant, , Global diversity, population stratification, and selection of human copy-number variation. Science 349, aab3761 (2015).","journal-title":"Science"},{"key":"e_1_3_4_34_2","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/nature12228","article-title":"Great ape genetic diversity and population history","volume":"499","author":"Prado-Martinez J","year":"2013","unstructured":"J Prado-Martinez, , Great ape genetic diversity and population history. 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