Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Autor: Merker, Jason D., Wenger, Aaron M., Sneddon, Tam, Grove, Megan, Zappala, Zachary, Fresard, Laure, Waggott, Daryl, Utiramerur, Sowmi, Hou, Yanli, Smith, Kevin S., Montgomery, Stephen B., Wheeler, Matthew, Buchan, Jillian G., Lambert, Christine C., Eng, Kevin S., Hickey, Luke, Korlach, Jonas, Ford, James, Ashley, Euan A.
Zdroj: In Genetics in Medicine January 2018 20(1):159-163
Databáze: ScienceDirect
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