Sentieon 软件发布V202112版本更新

Sentieon 软件忠于BWA、GATK、MuTect、MuTect2、STAR、Minimap2等金标准的数学模型,在保证完全匹配开源分析方案结果的前提下,计算效率提升15倍以上。Sentieon为大群组项目提供一站式Joint Calling解决方案,可同时处理10万个WGS样本的Joint Calling,无需中间步骤。大幅提升WGS/WES/Panel/ctDNA/RNA等基因数据分析效率。

根据用户的需求与反馈,持续迭代改进Sentieon软件包。2021年12月15日,Sentieon推出了最新的202112版本:

进一步提升Sentieon BWA比对模块的速度;

进一步优化Minimap2的分析速度;

Joint-calling新引入的低内存调用模式,为超大容量gvcf文件分析提供支持;

添加Element Biosciences测序平台的支持;

TNhaplotyper2模块添加了对标 GATK –genotype-germline-sites的选项。

除此之外,Sentieon 202112版本软件,还对前一个版本的bug进行了修复。

新添加功能

Improved speed of bwa mem.

Improved speed of minimap2 when -x splice:hq argument is used.

Improved speed of LocusCollector when input bam has huge number of contigs.

Implemented a low memory usage mode for extremely large GVCFtyper jobs.

Added option in TNhaplotyper2 to match with GATK –genotype-germline-sites option.

Added ELEMENT platform to support Element Biosciences sequencers.

Modified TNscope AF output format.

Added support in GVCFtyper to take multi-sample gVCF files with coverage gaps.

Bug修复

Solved matching issue in STAR when using non-default value for chimMultimapNmax.

Solved buffer overflow issue in STAR due to base count difference between input R1 and R2.

Solved issue in TNhaplotyer2 that could cause matching difference with GATK-4.2.0.0 when the input bam has high QUAL N bases.

Solved issue in TNhaplotyper2 that could cause a crash under rare circumstances.

Solved minor matching issue in median annotations in TNhaplotyper2.

Solved issue that triggered stack overflow when input bam has substantially dense region.

Solved issue in duplex umi consensus that results depend on internal data order.

Added additional error checks and error reporting.

硕科技

公众号 :INSVAST

哔哩哔哩:毅硕_Insvast

生物信息|精准医疗|HPC计算

来源:毅硕科技

声明:本站部分文章及图片转载于互联网,内容版权归原作者所有,如本站任何资料有侵权请您尽早请联系jinwei@zod.com.cn进行处理,非常感谢!

上一篇 2021年11月18日
下一篇 2021年11月18日

相关推荐