Genome

Scientists Resolve Epilepsy-Causing Repeat Expansion with Sequel System

6 monthes ago   |   By Pacific Biosciences

Scientists in Japan report using the unique properties of SMRT Sequencing to detect a structural variant responsible for a hereditary form of epilepsy. The 4.6 kb intronic repeat insertion was found from low-coverage whole genome sequence data, leading the team to suggest that this approach could be useful for determining the genetic mechanisms behind many unexplained diseases.
“ Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases ” comes from lead author Takeshi Mizuguchi, senior author Satoko...
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