Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

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Fältnamn	Indikatorer	Metadata
000		27798naa a2203061 4500
001		oai:DiVA.org:uu-387924
003		SwePub
008		190627s2019 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3879242 URI
024	7	a https://doi.org/10.1038/s41591-019-0457-82 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Fresard, Laureu Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA4 aut
245	1 0	a Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
264		c 2019-06-03
264	1	b NATURE PUBLISHING GROUP,c 2019
338		a print2 rdacarrier
500		a Group Authors: Undiagnosed Dis Network ; Care4Rare Canada Consortium
520		a It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
700	1	a Smail, Craigu Stanford Univ, Biomed Informat Program, Stanford, CA 94305 USA4 aut
700	1	a Ferraro, Nicole M.u Stanford Univ, Biomed Informat Program, Stanford, CA 94305 USA4 aut
700	1	a Teran, Nicole A.u Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA4 aut
700	1	a Li, Xinu Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA4 aut
700	1	a Smith, Kevin S.u Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Bonner, Devonu Stanford Univ, Stanford Ctr Undiagnosed Dis, Stanford, CA USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Kernohan, Kristin D.u Childrens Hosp Eastern Ontario, NSO, Ottawa, ON, Canada4 aut
700	1	a Marwaha, Shrutiu Stanford Univ, Stanford Ctr Undiagnosed Dis, Stanford, CA USA;Stanford Univ, Stanford Cardiovasc Inst, Sch Med, Stanford, CA 94305 USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Zappala, Zacharyu Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA4 aut
700	1	a Balliu, Brunildau Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA4 aut
700	1	a Davis, Joe R.u Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA4 aut
700	1	a Liu, Boxiangu Stanford Univ, Sch Humanities & Sci, Dept Biol, Stanford, CA 94305 USA4 aut
700	1	a Prybol, Cameron J.u Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA4 aut
700	1	a Kohler, Jennefer N.u Stanford Univ, Stanford Ctr Undiagnosed Dis, Stanford, CA USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Zastrow, Diane B.u Stanford Univ, Stanford Ctr Undiagnosed Dis, Stanford, CA USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Reuter, Chloe M.u Stanford Univ, Stanford Ctr Undiagnosed Dis, Stanford, CA USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Fisk, Dianna G.u Stanford Univ, Sch Med, Stanford Med Clin Genom Program, Stanford, CA 94305 USA4 aut
700	1	a Grove, Megan E.u Stanford Univ, Sch Med, Stanford Med Clin Genom Program, Stanford, CA 94305 USA4 aut
700	1	a Davidson, Jean M.u Stanford Univ, Stanford Ctr Undiagnosed Dis, Stanford, CA USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Hartley, Tailau Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada4 aut
700	1	a Joshi, Ruchiu Stanford Univ, Sch Med, Stanford Med Clin Genom Program, Stanford, CA 94305 USA4 aut
700	1	a Strober, Benjamin J.u Johns Hopkins Univ, Dept Biomed Engn, Baltimore, MD USA4 aut
700	1	a Utiramerur, Sowmithriu Stanford Univ, Sch Med, Stanford Med Clin Genom Program, Stanford, CA 94305 USA4 aut
700	1	a Lind, Larsu Uppsala universitet,Klinisk epidemiologi4 aut0 (Swepub:uu)larslind
700	1	a Ingelsson, Eriku Stanford Univ, Stanford Cardiovasc Inst, Sch Med, Stanford, CA 94305 USA;Stanford Univ, Sch Med, Div Cardiovasc Med, Dept Med, Stanford, CA 94305 USA4 aut
700	1	a Battle, Alexisu Johns Hopkins Univ, Dept Biomed Engn, Baltimore, MD USA;Johns Hopkins Univ, Dept Comp Sci, Baltimore, MD 21218 USA4 aut
700	1	a Bejerano, Gillu Stanford Univ, Dept Comp Sci, Stanford, CA 94305 USA;Stanford Univ, Sch Med, Dept Pediat, Stanford, CA 94305 USA;Stanford Univ, Sch Med, Dept Dev Biol, Stanford, CA 94305 USA;Stanford Univ, Sch Med, Dept Biomed Data Sci, Stanford, CA 94305 USA4 aut
700	1	a Bernstein, Jonathan A.u Stanford Univ, Sch Med, Dept Pediat, Stanford, CA 94305 USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Ashley, Euan A.u Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA;Stanford Univ, Stanford Ctr Undiagnosed Dis, Stanford, CA USA;Stanford Univ, Sch Med, Div Cardiovasc Med, Dept Med, Stanford, CA 94305 USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Boycott, Kym M.u Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada4 aut
700	1	a Merker, Jason D.u Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA;Stanford Univ, Sch Med, Stanford Med Clin Genom Program, Stanford, CA 94305 USA;Univ N Carolina, Sch Med, Lineberger Comprehens Canc Ctr, Dept Pathol & Lab Med, Chapel Hill, NC 27515 USA;Univ N Carolina, Sch Med, Lineberger Comprehens Canc Ctr, Dept Genet, Chapel Hill, NC 27515 USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Wheeler, Matthew T.u Stanford Univ, Stanford Ctr Undiagnosed Dis, Stanford, CA USA;Stanford Univ, Stanford Cardiovasc Inst, Sch Med, Stanford, CA 94305 USA;NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Montgomery, Stephen B.u Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA;Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA4 aut
700	1	a Adams, David R.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Aday, Aaronu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Alejandro, Mercedes E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Allard, Patricku NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Azamian, Mahshid S.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Bacino, Carlos A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Baker, Evau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Balasubramanyam, Ashoku NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Barseghyan, Hayku NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Batzli, Gabriel F.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Beggs, Alan H.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Behnam, Babaku NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Bellen, Hugo J.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Berry, Gerard T.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Bican, Annau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Bick, David P.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Birch, Camille L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Boone, Braden E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Bostwick, Bret L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Briere, Lauren C.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Brokamp, Ellyu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Brown, Donna M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Brush, Matthewu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Burke, Elizabeth A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Burrage, Lindsay C.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Butte, Manish J.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Chen, Shanu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Clark, Gary D.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Coakley, Terra R.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Cogan, Joy D.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Colley, Heather A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Cooper, Cynthia M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Cope, Heidiu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Craigen, William J.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a D'Souza, Precillau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Davids, Mariskau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Dayal, Jyoti G.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Dell'Angelica, Esteban C.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Dhar, Shweta U.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Dipple, Katrina M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Donnell-Fink, Laurel A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Dorrani, Naghmehu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Dorset, Daniel C.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Douine, Emilie D.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Draper, David D.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Dries, Annika M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Duncan, Laurau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Eckstein, David J.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Emrick, Lisa T.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Eng, Christine M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Enns, Gregory M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Eskin, Asciau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Esteves, Ceciliau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Estwick, Tyrau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Fernandez, Lilianau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Ferreira, Carlosu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Fieg, Elizabeth L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Fisher, Paul G.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Fogel, Brent L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Friedman, Noah D.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Gahl, William A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Glanton, Emilyu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Godfrey, Rena A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Goldman, Alica M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Goldstein, David B.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Gould, Sarah E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Gourdine, Jean-Philippe F.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Groden, Catherine A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Gropman, Andrea L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Haendel, Melissau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Hamid, Rizwanu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Hanchard, Neil A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a High, Francesu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Holm, Ingrid A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Hom, Jasonu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Howerton, Ellen M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Huang, Yongu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Jamal, Farihau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Jiang, Yong-huiu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Johnston, Jean M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Jones, Angela L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Karaviti, Lefkotheau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Koeller, David M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Kohane, Isaac S.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Krasnewich, Donna M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Korrick, Susanu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Koziura, Maryu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Krier, Joel B.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Kyle, Jennifer E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Lalani, Seema R.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Lau, C. Christopheru NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Lazar, Jozefu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a LeBlanc, Kimberlyu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Lee, Brendan H.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Lee, Haneu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Levy, Shawn E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Lewis, Richard A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Lincoln, Sharyn A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Loo, Sandra K.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Loscalzo, Josephu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Maas, Richard L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Macnamara, Ellen F.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a MacRae, Calum A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Maduro, Valerie V.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Majcherska, Marta M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Malicdan, May Christine V.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Mamounas, Laura A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Manolio, Teri A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Markello, Thomas C.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Marom, Ronitu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Martin, G. Martinu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Martinez-Agosto, Julian A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a May, Thomasu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a McConkie-Rosell, Allynu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a McCormack, Colleen E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a McCray, Alexa T.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Metz, Thomas O.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Might, Matthewu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Moretti, Paolo M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Morimoto, Marieu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Mulvihill, John J.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Murdock, David R.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Murphy, Jennifer L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Muzny, Donna M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Nehrebecky, Michele E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Nelson, Stan F.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Newberry, J. Scottu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Newman, John H.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Nicholas, Sarah K.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Novacic, Donnau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Orange, Jordan S.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Orengo, James P.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Pallais, J. Carlu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Palmer, Christina G. S.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Papp, Jeanette C.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Parker, Neil H.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Pena, Loren D. M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Phillips, John A., IIIu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Posey, Jennifer E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Postlethwait, John H.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Potocki, Lorraineu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Pusey, Barbara N.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Renteria, Geneceeu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Rives, Lynetteu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Robertson, Amy K.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Rodan, Lance H.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Rosenfeld, Jill A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Sampson, Jacinda B.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Samson, Susan L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Schoch, Kellyu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Scott, Daryl A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Shakachite, Lisau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Sharma, Prashantu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Shashi, Vandanau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Signer, Rebeccau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Silverman, Edwin K.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Sinsheimer, Janet S.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Spillmann, Rebecca C.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Stoler, Joan M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Stong, Nicholasu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Sullivan, Jennifer A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Sweetser, David A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Tan, Queenie K. -G.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Tifft, Cynthia J.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Toro, Camilou NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Tran, Alyssa A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Urv, Tiina K.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Vilain, Ericu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Vogel, Tiphanie P.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Waggott, Daryl M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Wahl, Colleen E.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Walley, Nicole M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Walsh, Chris A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Walker, Melissau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Wan, Jijunu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Wangler, Michael F.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Ward, Patricia A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Waters, Katrina M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Webb-Robertson, Bobbie-Jo M.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Westerfield, Monteu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Wise, Anastasia L.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Wolfe, Lynne A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Worthey, Elizabeth A.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Yamamoto, Shinyau NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Yang, Johnu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Yang, Yapingu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Yoon, Amanda J.u NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Yu, Guoyunu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Zhao, Chunliu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Zheng, Allisonu NIH, Undiagnosed Dis Network, Bldg 10, Bethesda, MD 20892 USA4 aut
700	1	a Boycott, Kymu Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada4 aut
700	1	a MacKenzie, Alexu Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada4 aut
700	1	a Majewski, Jaceku McGill Univ, Montreal, PQ, Canada4 aut
700	1	a Brudno, Michaelu Univ Toronto, Toronto, ON, Canada4 aut
700	1	a Bulman, Dennisu Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada4 aut
700	1	a Dyment, Davidu Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada4 aut
710	2	a Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USAb Stanford Univ, Biomed Informat Program, Stanford, CA 94305 USA4 org
773	0	t Nature Medicined : NATURE PUBLISHING GROUPg 25:6, s. 911-919q 25:6<911-919x 1078-8956x 1546-170X
856	4	u https://europepmc.org/articles/pmc6634302?pdf=render
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-387924
856	4 8	u https://doi.org/10.1038/s41591-019-0457-8

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By the author/editor: Fresard, Laure; Smail, Craig; Ferraro, Nicole ...; Teran, Nicole A.; Li, Xin; Smith, Kevin S.; show more...; Bonner, Devon; Kernohan, Kristi ...; Marwaha, Shruti; Zappala, Zachary; Balliu, Brunilda; Davis, Joe R.; Liu, Boxiang; Prybol, Cameron ...; Kohler, Jennefer ...; Zastrow, Diane B ...; Reuter, Chloe M.; Fisk, Dianna G.; Grove, Megan E.; Davidson, Jean M ...; Hartley, Taila; Joshi, Ruchi; Strober, Benjami ...; Utiramerur, Sowm ...; Lind, Lars; Ingelsson, Erik; Battle, Alexis; Bejerano, Gill; Bernstein, Jonat ...; Ashley, Euan A.; Boycott, Kym M.; Merker, Jason D.; Wheeler, Matthew ...; Montgomery, Step ...; Adams, David R.; Aday, Aaron; Alejandro, Merce ...; Allard, Patrick; Azamian, Mahshid ...; Bacino, Carlos A ...; Baker, Eva; Balasubramanyam, ...; Barseghyan, Hayk; Batzli, Gabriel ...; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L ...; Boone, Braden E.; Bostwick, Bret L ...; Briere, Lauren C ...; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth ...; Burrage, Lindsay ...; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R ...; Cogan, Joy D.; Colley, Heather ...; Cooper, Cynthia ...; Cope, Heidi; Craigen, William ...; D'Souza, Precill ...; Davids, Mariska; Dayal, Jyoti G.; Dell'Angelica, E ...; Dhar, Shweta U.; Dipple, Katrina ...; Donnell-Fink, La ...; Dorrani, Naghmeh; Dorset, Daniel C ...; Douine, Emilie D ...; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David ...; Emrick, Lisa T.; Eng, Christine M ...; Enns, Gregory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fernandez, Lilia ...; Ferreira, Carlos; Fieg, Elizabeth ...; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D ...; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldman, Alica M ...; Goldstein, David ...; Gould, Sarah E.; Gourdine, Jean-P ...; Groden, Catherin ...; Gropman, Andrea ...; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A ...; High, Frances; Holm, Ingrid A.; Hom, Jason; Howerton, Ellen ...; Huang, Yong; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M ...; Jones, Angela L.; Karaviti, Lefkot ...; Koeller, David M ...; Kohane, Isaac S.; Krasnewich, Donn ...; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E ...; Lalani, Seema R.; Lau, C. Christop ...; Lazar, Jozef; LeBlanc, Kimberl ...; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A ...; Lincoln, Sharyn ...; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen ...; MacRae, Calum A.; Maduro, Valerie ...; Majcherska, Mart ...; Malicdan, May Ch ...; Mamounas, Laura ...; Manolio, Teri A.; Markello, Thomas ...; Marom, Ronit; Martin, G. Marti ...; Martinez-Agosto, ...; May, Thomas; McConkie-Rosell, ...; McCormack, Colle ...; McCray, Alexa T.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M ...; Morimoto, Marie; Mulvihill, John ...; Murdock, David R ...; Murphy, Jennifer ...; Muzny, Donna M.; Nehrebecky, Mich ...; Nelson, Stan F.; Newberry, J. Sco ...; Newman, John H.; Nicholas, Sarah ...; Novacic, Donna; Orange, Jordan S ...; Orengo, James P.; Pallais, J. Carl; Palmer, Christin ...; Papp, Jeanette C ...; Parker, Neil H.; Pena, Loren D. M ...; Phillips, John A ...; Posey, Jennifer ...; Postlethwait, Jo ...; Potocki, Lorrain ...; Pusey, Barbara N ...; Renteria, Genece ...; Rives, Lynette; Robertson, Amy K ...; Rodan, Lance H.; Rosenfeld, Jill ...; Sampson, Jacinda ...; Samson, Susan L.; Schoch, Kelly; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Signer, Rebecca; Silverman, Edwin ...; Sinsheimer, Jane ...; Spillmann, Rebec ...; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennif ...; Sweetser, David ...; Tan, Queenie K. ...; Tifft, Cynthia J ...; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vilain, Eric; Vogel, Tiphanie ...; Waggott, Daryl M ...; Wahl, Colleen E.; Walley, Nicole M ...; Walsh, Chris A.; Walker, Melissa; Wan, Jijun; Wangler, Michael ...; Ward, Patricia A ...; Waters, Katrina ...; Webb-Robertson, ...; Westerfield, Mon ...; Wise, Anastasia ...; Wolfe, Lynne A.; Worthey, Elizabe ...; Yamamoto, Shinya; Yang, John; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zhao, Chunli; Zheng, Allison; Boycott, Kym; MacKenzie, Alex; Majewski, Jacek; Brudno, Michael; Bulman, Dennis; Dyment, David; show less...

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