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作者：
Tzung-Chien,Hsieh [1]
;
Martin A,Mensah [2]
;
Jean T,Pantel [3]
;
Dione,Aguilar [2]
;
Omri,Bar [3]
;
Allan,Bayat [1]
;
Luis,Becerra-Solano [2]
;
Heidi B,Bentzen [3]
;
Saskia,Biskup [4]
;
Oleg,Borisov [5]
;
Oivind,Braaten [6]
;
Claudia,Ciaccio [7]
;
Marie,Coutelier [8]
;
Kirsten,Cremer [9]
;
Magdalena,Danyel [1]
;
Svenja,Daschkey [10]
;
Hilda David,Eden [11]
;
Koenraad,Devriendt [2]
;
Sandra,Wilson [12]
;
Sofia,Douzgou [2]
;
Dejan,Đukić [13]
;
Nadja,Ehmke [5]
;
Christine,Fauth [14]
;
Björn,Fischer-Zirnsak [15]
;
Nicole,Fleischer [16]
;
Heinz,Gabriel [17]
;
Luitgard,Graul-Neumann [1]
;
Karen W,Gripp [2]
;
Yaron,Gurovich [18]
;
Asya,Gusina [2]
;
Nechama,Haddad [5]
;
Nurulhuda,Hajjir [19]
;
Yair,Hanani [2]
;
Jakob,Hertzberg [20]
;
Konstanze,Hoertnagel [5]
;
Janelle,Howell [21]
;
Ivan,Ivanovski [2]
;
Angela,Kaindl [2]
;
Tom,Kamphans [5]
;
Susanne,Kamphausen [2]
;
Catherine,Karimov [9]
;
Hadil,Kathom [22]
;
Anna,Keryan [23]
;
Alexej,Knaus [24]
;
Sebastian,Köhler [25]
;
Uwe,Kornak [26]
;
Alexander,Lavrov [27]
;
Maximilian,Leitheiser [28]
;
Gholson J,Lyon [27]
;
Elisabeth,Mangold [1]
;
Purificación Marín,Reina [29]
;
Antonio Martinez,Carrascal [2]
;
Diana,Mitter [30]
;
Laura Morlan,Herrador [2]
;
Guy,Nadav [31]
;
Markus,Nöthen [32]
;
Alfredo,Orrico [33]
;
Claus-Eric,Ott [34]
;
Kristen,Park [35]
;
Borut,Peterlin [36]
;
Laura,Pölsler [5]
;
Annick,Raas-Rothschild [12]
;
Linda,Randolph [37]
;
Nicole,Revencu [2]
;
Christina Ringmann,Fagerberg [38]
;
Peter Nick,Robinson [39]
;
Stanislav,Rosnev [18]
;
Sabine,Rudnik [40]
;
Gorazd,Rudolf [27]
;
Ulrich,Schatz [41]
;
Anna,Schossig [42]
;
Max,Schubach [43]
;
Or,Shanoon [2]
;
Eamonn,Sheridan [18]
;
Pola,Smirin-Yosef [39]
;
Malte,Spielmann [18]
;
Eun-Kyung,Suk [18]
;
Yves,Sznajer [3]
;
Christian T,Thiel [5]
;
Gundula,Thiel [44]
;
Alain,Verloes [45]
;
Irena,Vrecar [2]
;
Dagmar,Wahl [46]
;
Ingrid,Weber [47]
;
Korina,Winter [48]
;
Marzena,Wiśniewska [46]
;
Bernd,Wollnik [49]
;
Ming W,Yeung [39]
;
Max,Zhao [50]
;
Na,Zhu [18]
;
Johannes,Zschocke [2]
;
Stefan,Mundlos [51]
;
Denise,Horn [52]
;
Peter M,Krawitz [1]
作者单位：
Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
[1]
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
[2]
Berlin Institute of Health (BIH), Berlin, Germany.
[3]
Centro de Cáncer de Mama, Tecnológico de Monterrey, Monterrey, Mexico.
[4]
FDNA Inc., Boston, MA, USA.
[5]
Rigshospitalet, Department of Neurology, Copenhagen, Denmark.
[6]
Unidad de Investigación Médica en Medicina Reproductiva, Mexico City, Mexico.
[7]
Centre for Medical Ethics, Faculty of Medicine and the Norwegian Research Center for Computers and Law, Faculty of Law, University of Oslo, Oslo, Norway.
[8]
CeGaT GmbH, Tübingen, Germany.
[9]
Faculty of Medicine, Department of Medical Genetics, University of Oslo, Blindern, Oslo, Norway.
[10]
Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
[11]
Department of Human Genetics, University Hospital of Bonn, Bonn, Germany.
[12]
Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
[13]
Department of Human Genetics, KU Leuven, Leuven, Belgium.
[14]
Department of Human Genetics, University of Hamburg, Hamburg, Germany.
[15]
Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, United Kingdom.
[16]
School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom.
[17]
Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
[18]
Center for Genomics and Transcriptomics, Eberhard Karls University of Tübingen, Tübingen, Germany.
[19]
A. I. duPont Hospital for Children, Wilmington, DE, USA.
[20]
National Research and Applied Medicine Centre 'Mother and Child'', Minsk, Belarus.
[21]
Lineagen, Salt Lake City, Utah, USA.
[22]
Clinical Genetics Unit, AUSL-IRCCS Reggio Emilia, Reggio Emilia, Italy.
[23]
Center for Chronically Sick Children (Sozialpädiatrisches Zentrum, SPZ), Charité - Universitätsmedizin Berlin, Berlin, Germany.
[24]
GeneTalk, Bonn, Germany.
[25]
University Hospital Magdeburg, Magdeburg, Germany.
[26]
Children's Hospital of Los Angeles, Los Angeles, CA, USA.
[27]
Department of Pediatrics, Medical University of Sofia, Sofia, Bulgaria.
[28]
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, NeuroCure Clinical Research Center, Berlin, Germany.
[29]
Research Institute of Medical Genetics of Russian Academy of Medical Sciences, Moscow, Russian Federation.
[30]
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Woodbury, New York, USA.
[31]
Institute of Human Genetics, University of Bonn, Bonn, Germany.
[32]
Hospital General Universitario De Valencia, Valencia, Spain.
[33]
Hospital General De Requena, Servicio Pediatría, Spain.
[34]
University Hospital Leipzig, Leipzig, Germany.
[35]
Hospital Universitario Miguel Servet, Zaragoza, Spain.
[36]
Azienda Ospedaliera Universitaria Senese, Siena, Italy.
[37]
Department of Pediatrics and Neurology, University of Colorado School of Medicine, Colorado, Aurora, USA.
[38]
Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
[39]
The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
[40]
Center for Human Genetics, University Hospital, Université Catholique de Louvain, Brussels, Belgium.
[41]
Odense University Hospital, Odense, Denmark.
[42]
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
[43]
School of Medicine, University of Leeds, Leeds, United Kingdom.
[44]
Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Ariel, Israel.
[45]
Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
[46]
Cliniques universitaires Saint Luc UCL, Bruxelles, Belgium.
[47]
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg FAU, Erlangen, Erlangen, Germany.
[48]
Hopital Robert Debré, Paris, France.
[49]
Center for Human Genetics and Laboratory Diagnostics Dr. Klein, Dr. Rost and Colleagues, Martinsried, Germany.
[50]
Poznañ University of Medical Sciences, Poznañ, Poland.
[51]
University Medical Center Göttingen, Göttingen, Germany.
[52]
Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.
[53]
主题词
算法(Algorithms);计算生物学(Computational Biology);数据库, 遗传学(Databases, Genetic);女(雌)性(Female);基因组学(Genomics);人类(Humans);图像处理, 计算机辅助(Image Processing, Computer-Assisted);男(雄)性(Male);表型(Phenotype);序列分析, DNA(Sequence Analysis, DNA);软件(Software)
DOI
10.1038/s41436-019-0566-2
PMID
31164752
发布时间
2022-05-22
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Genetics in medicine
Genetics in medicine
2807-2814页
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