GLASS：从桑格测序迹线数据中辅助和标准化评估基因变异。
GLASS: assisted and standardized assessment of gene variations from Sanger sequence trace data.
机构信息
CEITEC-Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
Hematology Department and HCT Unit, G. Papanicolaou Hospital.
出版信息
Bioinformatics. 2017 Dec 1;33(23):3802-3804. doi: 10.1093/bioinformatics/btx423.
MOTIVATION
Sanger sequencing is still being employed for sequence variant detection by many laboratories, especially in a clinical setting. However, chromatogram interpretation often requires manual inspection and in some cases, considerable expertise.
RESULTS
We present GLASS, a web-based Sanger sequence trace viewer, editor, aligner and variant caller, built to assist with the assessment of variations in 'curated' or user-provided genes. Critically, it produces a standardized variant output as recommended by the Human Genome Variation Society.
AVAILABILITY AND IMPLEMENTATION
GLASS is freely available at http://bat.infspire.org/genomepd/glass/ with source code at https://github.com/infspiredBAT/GLASS.
CONTACT
nikos.darzentas@gmail.com or malcikova.jitka@fnbrno.cz.
SUPPLEMENTARY INFORMATION
Supplementary data are available at Bioinformatics online.
动机
桑格测序仍然被许多实验室用于序列变异检测，特别是在临床环境中。然而，色谱图解释通常需要手动检查，在某些情况下，还需要相当的专业知识。
结果
我们提出了 GLASS，这是一个基于网络的桑格序列痕迹查看器、编辑器、对齐器和变体调用器，旨在协助评估“精选”或用户提供的基因中的变异。至关重要的是，它按照人类基因组变异协会的建议生成标准化的变异输出。
可用性和实现
GLASS 可在 http://bat.infspire.org/genomepd/glass/ 免费获得，源代码可在 https://github.com/infspiredBAT/GLASS 获得。
联系方式
nikos.darzentas@gmail.com 或 malcikova.jitka@fnbrno.cz。
补充信息
补充数据可在生物信息学在线获得。
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