Sentieon 202112 软件更新列表

Sentieon202112版本发布：功能增强与性能优化

原创已于 2022-02-21 10:49:32 修改 · 310 阅读

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#大数据 #生物信息学 #并行计算

于 2021-12-28 09:36:08 首次发布

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Sentieon发布了202112版本，提升了BWA和Minimap2的比对速度，新增低内存调用模式支持大规模gVCF分析，增加对Element Biosciences平台的支持，并优化了TNHaplotyper2模块。此外，版本还修复了多个bug，包括STAR匹配问题和TNHaplotyper2的稳定性问题。

Sentieon 202112版本于12月中旬正式发布，在此版本中添加添加了众多功能和性能优化：

进一步提升Sentieon BWA比对模块的速度；
提升提升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；
添加对Element Biosciences测序平台的支持；
为TNhaplotyper2模块添加了对标 GATK --genotype-germline-sites的选型

除此之外，Sentieon 202112版本软件，还对上个版本的bug进行了修复。具体更新列表如下：

新功能：

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.

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