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Lessons learned from gene identification studies in Mendelian epilepsy disorders
Next-generation sequencing (NGS) technologies are now routinely used for gene identification in Mendelian disorders. Setting up cost-efficient NGS projects and managing the large amount of variants remains, however, a challenging job. Here we provide insights in the decision-making processes before...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Eur J Hum Genet |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5070902/ https://ncbi.nlm.nih.gov/pubmed/26603999 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.251 |
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