STRetch: detecting and discovering pathogenic short tandem repeat expansions
Abstract Short tandem repeat (STR) expansions have been identified as the causal DNA mutation in dozens of Mendelian diseases. Most existing tools for detecting STR variation with short reads do so within the read length and so are unable to detect the majority of pathogenic expansions. Here we pres...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2018-08-01
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| Series: | Genome Biology |
| Online Access: | http://link.springer.com/article/10.1186/s13059-018-1505-2 |