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的选项;

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:


- 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.


-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- 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.