Genetics of Two Mendelian Traits and Validation of Induced Pluripotent Stem Cell (iPSC) Technology for Disease Modeling
Novel technologies for genome analysis have provided almost unlimited opportunities to uncover structural gene variants behind human disorders. Whole exome sequencing (WES) is especially useful for understanding rare Mendelian conditions, because it reduces the requirements for a priori clinical dat...
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| Format: | Doctoral Thesis |
| Language: | English |
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Uppsala universitet, Medicinsk genetik och genomik
2015
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| Online Access: | http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-246228 http://nbn-resolving.de/urn:isbn:978-91-554-9184-0 |