Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
2014; American Association for the Advancement of Science; Volume: 6; Issue: 252 Linguagem: Inglês
10.1126/scitranslmed.3009262
ISSN1946-6242
AutoresTomasz Żemojtel, Sebastian Köhler, Luisa Mackenroth, Marten Jäger, Jochen Hecht, Peter Krawitz, Luitgard Graul‐Neumann, Sandra C. Doelken, Nadja Ehmke, Malte Spielmann, Nancy Christine Øien, Michal R. Schweiger, Ulrike Krüger, Götz Frommer, Björn Fischer‐Zirnsak, Uwe Kornak, Ricarda Flöttmann, Amin Ardeshirdavani, Yves Moreau, Suzanna Lewis, Melissa Haendel, Damian Smedley, Denise Horn, Stefan Mundlos, Peter N. Robinson,
Tópico(s)Genomics and Phylogenetic Studies
ResumoPatients with genetic disease of unknown causes can be rapidly diagnosed by bioinformatic analysis of disease-associated DNA sequences and phenotype.
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