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U.S.A."],"published-print":{"date-parts":[[2021,11,16]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>Whole-chromosome gains and losses (aneuploidies) are the leading cause of human pregnancy loss and congenital disorders. Recent work has demonstrated that in addition to harmful meiotic aneuploidies, mitotic aneuploidies (which lead to mosaic embryos harboring cells with different numbers of chromosomes) may also be common in preimplantation embryos but potentially compatible with healthy birth. Here we developed and tested a method for distinguishing these forms of aneuploidy using genetic testing data from 8,154 in vitro fertilization (IVF) embryos. We reclassified embryos based on signatures of meiotic and mitotic error, while also revealing lethal forms of chromosome abnormality that were previously hidden. Our method complements standard protocols for preimplantation genetic testing, while offering insight into the biology of early development.<\/jats:p>","DOI":"10.1073\/pnas.2109307118","type":"journal-article","created":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T16:25:59Z","timestamp":1636734359000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":25,"title":["Haplotype-aware inference of human chromosome abnormalities"],"prefix":"10.1073","volume":"118","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7427-6435","authenticated-orcid":false,"given":"Daniel","family":"Ariad","sequence":"first","affiliation":[{"name":"Department of Biology, Johns Hopkins University, Baltimore, MD 21218;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6880-465X","authenticated-orcid":false,"given":"Stephanie M.","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Biology, Johns Hopkins University, Baltimore, MD 21218;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea R.","family":"Victor","sequence":"additional","affiliation":[{"name":"Zouves Fertility Center, Foster City, CA 94131;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2645-9261","authenticated-orcid":false,"given":"Frank L.","family":"Barnes","sequence":"additional","affiliation":[{"name":"Zouves Fertility Center, Foster City, CA 94131;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christo G.","family":"Zouves","sequence":"additional","affiliation":[{"name":"Zouves Fertility Center, Foster City, CA 94131;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1844-2571","authenticated-orcid":false,"given":"Manuel","family":"Viotti","sequence":"additional","affiliation":[{"name":"Zouves Foundation for Reproductive Medicine, Foster City, CA 94131"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0615-146X","authenticated-orcid":false,"given":"Rajiv C.","family":"McCoy","sequence":"additional","affiliation":[{"name":"Department of Biology, Johns Hopkins University, Baltimore, MD 21218;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2021,11,12]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/35066065"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3245"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aav7321"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0967199400001015"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-009-9306-x"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2017.04.001"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.06.013"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-09693-1"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy147"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0166398"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2021.04.013"},{"key":"e_1_3_4_13_2","author":"Ford E.","unstructured":"E. 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