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Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger, Tobias; Neuhaus, Christine; Khan, Arif O; Decker, Christian; Preising, Markus N; Friedburg, Christoph; Bieg, Anika; Gliem, Martin; Charbel Issa, Peter; Holz, Frank G; Baig, Shahid M; Hellenbroich, Yorck; Galvez, Alberto; Platzer, Konrad; Wollnik, Bernd; Laddach, Nadja; Ghaffari, Saeed Reza; Rafati, Maryam; Botzenhart, Elke; Tinschert, Sigrid; Börger, Doris; Bohring, Axel; Schreml, Julia; Körtge-Jung, Stefani; Schell-Apacik, Chayim; Bakur, Khadijah; Al-Aama, Jumana Y; Neuhann, Teresa; Herkenrath, Peter; Nürnberg, Gudrun; Nürnberg, Peter; Davis, John S; Gal, Andreas; Bergmann, Carsten; Lorenz, Birgit; Bolz, Hanno J.
Affiliation
  • Eisenberger T; Bioscientia Center for Human Genetics, Ingelheim, Germany.
PLoS One ; 8(11): e78496, 2013.
Article in En | MEDLINE | ID: mdl-24265693
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Sequence Analysis, DNA / DNA Copy Number Variations / Retinal Dystrophies / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2013 Document type: Article Affiliation country:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Sequence Analysis, DNA / DNA Copy Number Variations / Retinal Dystrophies / High-Throughput Nucleotide Sequencing Type of study: Diagnostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: PLoS One Journal subject: CIENCIA / MEDICINA Year: 2013 Document type: Article Affiliation country: