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Limited genomic resources available for water buffalo required an original approach to identify genetic variants associated with the disease. The genomes of 4 bilateral and 7 unilateral affected cases and 14 controls were sequenced. A concordance analysis of SNPs and INDELs requiring homozygosity unique to all unilateral and bilateral cases revealed two genes,\n                    <jats:italic>WNT7A<\/jats:italic>\n                    and\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    , known to play a role in embryonic hindlimb development. Additionally, SNP alleles in\n                    <jats:italic>NOTCH1<\/jats:italic>\n                    and\n                    <jats:italic>RARB<\/jats:italic>\n                    were homozygous exclusively in the bilateral cases, suggesting an oligogenic mode of inheritance. Homozygosity mapping by whole genome\n                    <jats:italic>de novo<\/jats:italic>\n                    assembly also supported oligogenic inheritance; implicating 13 genes involved in hindlimb development in bilateral cases and 11 in unilateral cases. A genome-wide association study (GWAS) predicted additional modifier genes. Although our data show a complex inheritance of TH, we predict that homozygous variants in\n                    <jats:italic>WNT7A<\/jats:italic>\n                    and\n                    <jats:italic>SMARCA4<\/jats:italic>\n                    are necessary for expression of TH and selection against these variants should eradicate TH.\n                  <\/jats:p>","DOI":"10.1038\/srep39719","type":"journal-article","created":{"date-parts":[[2017,1,3]],"date-time":"2017-01-03T05:15:15Z","timestamp":1483420515000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Elucidating the genetic basis of an oligogenic birth defect using whole genome sequence data in a non-model organism, Bubalus bubalis"],"prefix":"10.1038","volume":"7","author":[{"given":"Lynsey K.","family":"Whitacre","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesse L.","family":"Hoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert D.","family":"Schnabel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Albarella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Ciotola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Peretti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Strozzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Ferrandi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigi","family":"Ramunno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tad S.","family":"Sonstegard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John L.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy F.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jared E.","family":"Decker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,1,3]]},"reference":[{"key":"BFsrep39719_CR1","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/S0007-1935(17)31782-7","volume":"137","author":"WR Cockrill","year":"1981","unstructured":"Cockrill, W. 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