SeqMule: automated pipeline for analysis of human exome/genome sequencing data

@inproceedings{Guo2015SeqMuleAP,
  title={SeqMule: automated pipeline for analysis of human exome/genome sequencing data},
  author={Yunfei Guo and Xiaolei Ding and Yufeng Shen and Gholson J. Lyon and Kai Yuen Wang},
  booktitle={Scientific reports},
  year={2015}
}
Next-generation sequencing (NGS) technology has greatly helped us identify disease-contributory variants for Mendelian diseases. However, users are often faced with issues such as software compatibility, complicated configuration, and no access to high-performance computing facility. Discrepancies exist among aligners and variant callers. We developed a computational pipeline, SeqMule, to perform automated variant calling from NGS data on human genomes and exomes. SeqMule integrates… CONTINUE READING
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