{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T13:48:38Z","timestamp":1782308918342,"version":"3.54.5"},"reference-count":69,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T00:00:00Z","timestamp":1778803200000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Human Genome Research Institute of the National Institutes of Health","award":["R01HG011711"],"award-info":[{"award-number":["R01HG011711"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Motivation<\/jats:title>\n                    <jats:p>Polygenic embryo screening (PES) is a new, controversial technology, whereby human in vitro fertilization embryos are screened for their genetic risk of complex, polygenic diseases. PES aims to reduce the disease burden in offspring by prioritizing the selection of low-risk embryos. However, given that polygenic diseases are usually late-onset, PES outcomes must be estimated by epidemiological modeling. The liability threshold model has been previously used to predict outcomes. However, predictions rely on complex sets of equations, some of which require numerical integration or simulation. Further, previous models failed to account for the possibility that the selected embryo will not be born.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Here, we present PEStimate, a freely available online app for predicting PES outcomes when screening for a single disease. PEStimate predicts the offspring risk with and without PES, as well as generates plots of the risk reduction versus key parameters. Users can adjust the number of available embryos, the live birth rate, the disease prevalence, the accuracy of the genetic risk predictor, the embryo selection method, the genetic risk of parents, and the disease status of parents, siblings, uncles\/aunts, and grandparents of the embryos. Our model includes, for the first time, the possibility of embryo implantation failure, showing that risk reductions have been previously overestimated. PEStimate provides geneticists, healthcare professionals, patients, and other stakeholders with a necessary tool for examining the impact of PES and weighing its potential benefits against possible personal and societal harms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Availability and implementation<\/jats:title>\n                    <jats:p>PEStimate: https:\/\/polygenicembryo.shinyapps.io\/pestimate. Source code: https:\/\/github.com\/Lirazk\/PEStimate.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/bioinformatics\/btag308","type":"journal-article","created":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T11:43:47Z","timestamp":1778586227000},"source":"Crossref","is-referenced-by-count":0,"title":["<i>PEStimate<\/i>\n                    : predicting offspring disease risk after polygenic embryo screening"],"prefix":"10.1093","volume":"42","author":[{"given":"Liraz","family":"Klausner","sequence":"first","affiliation":[{"name":"The Hebrew University of Jerusalem Braun School of Public Health and Community Medicine, , Jerusalem, 9112102,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ateret","family":"Revital","sequence":"additional","affiliation":[{"name":"The Hebrew University of Jerusalem Braun School of Public Health and Community Medicine, , Jerusalem, 9112102,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8586-338X","authenticated-orcid":false,"given":"Todd","family":"Lencz","sequence":"additional","affiliation":[{"name":"Feinstein Institutes for Medical Research Institute of Behavioral Science, , Manhasset, NY 11030,","place":["United States"]},{"name":"Zucker Hillside Hospital Division of Psychiatry Research, , Glen Oaks, NY 11004,","place":["United States"]},{"name":"Zucker School of Medicine at Hofstra\/Northwell Department of Psychiatry, , Hempstead, NY 11549,","place":["United States"]},{"name":"Zucker School of Medicine at Hofstra\/Northwell Department of Molecular Medicine , Hempstead, NY 11549,","place":["United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0188-2610","authenticated-orcid":false,"given":"Shai","family":"Carmi","sequence":"additional","affiliation":[{"name":"The Hebrew University of Jerusalem Braun School of Public Health and Community Medicine, , Jerusalem, 9112102,","place":["Israel"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,5,14]]},"reference":[{"key":"2026062409123719300_btag308-B1","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1038\/s41588-022-01158-0","article-title":"Gene\u2013environment correlations across geographic regions affect genome-wide association studies","volume":"54","author":"Abdellaoui","year":"2022","journal-title":"Nat Genet"},{"key":"2026062409123719300_btag308-B2","author":"All SART Member Clinics - 2022 Retrieval and Transfer Tables"},{"key":"2026062409123719300_btag308-B3","doi-asserted-by":"publisher","first-page":"18036","DOI":"10.1038\/s41598-023-45292-z","article-title":"SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing","volume":"13","author":"Backenroth","year":"2023","journal-title":"Sci Rep"},{"key":"2026062409123719300_btag308-B4","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1007\/s10815-024-03074-0","article-title":"Patient interest in and clinician reservations on polygenic embryo screening: a qualitative study of stakeholder perspectives","volume":"41","author":"Barlevy","year":"2024","journal-title":"J Assist Reprod Genet"},{"key":"2026062409123719300_btag308-B5","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1093\/humupd\/dmae012","article-title":"Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations","volume":"30","author":"Capalbo","year":"2024","journal-title":"Hum Reprod Update"},{"key":"2026062409123719300_btag308-B6","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1093\/humupd\/dmaa019","article-title":"The dawn of the future: 30 years from the first biopsy of a human embryo. 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