Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
School of Biosciences, The University of Melbourne, Parkville, VIC, Australia.
Genome Biol. 2018 Aug 21;19(1):121. doi: 10.1186/s13059-018-1505-2.
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 present STRetch, a new genome-wide method to scan for STR expansions at all loci across the human genome. We demonstrate the use of STRetch for detecting STR expansions using short-read whole-genome sequencing data at known pathogenic loci as well as novel STR loci. STRetch is open source software, available from github.com/Oshlack/STRetch .
短串联重复 (STR) 扩展已被确定为数十种孟德尔疾病的致病 DNA 突变。大多数现有的用于检测短读长中 STR 变异的工具都是在读长范围内进行的，因此无法检测到大多数致病扩展。在这里，我们提出了 STRetch，这是一种新的全基因组方法，用于在人类基因组的所有基因座上扫描 STR 扩展。我们展示了使用 STRetch 在已知致病基因座以及新的 STR 基因座使用短读长全基因组测序数据检测 STR 扩展的方法。STRetch 是一个开源软件，可从 github.com/Oshlack/STRetch 获得。
