Welcome to AutoPVS1 An automatic classification tool for PVS1 interpretation of null variants hg19hg38Search Example:MYH9,X-82763936-A-T,2-48033984-G-GGATT,11-2797090-2869333-DEL,NM_000128.3:c.1716+1G>A,tdup(17:7577936-7585058) AutomaticPVS1interpretation (AutoPVS1) is an automatic ...
AutoPVS1作为解读PVS1的辅助工具,将复杂的解读逻辑内置,通过一键操作实现了PVS1自动化精准解读,同时支持手动调整,可以帮助遗传解读人员缩短解读周期,降低解读难度,提高解读效率。但鉴于其自动化逻辑,对于不完全外显和迟发非致死性疾病使用AutoPVS1时要谨慎,因为这类疾病人群可能包含在gnomAD数据库中,会影响AutoPVS1预测的...
🎨AutoPVS1is now compatible withhg19/GRCh37andhg38/GRCh38. PREREQUISITE 1. Variant Effect Predictor (VEP) AutoPVS1useVEPto determine the effect of variants (SNVs, insertions, deletions, CNVs) on genes, transcripts, and protein sequence. To get HGVS name for the variant, indexed_vep_cache ...
软件名称基于AutoPVS1的pvs1注释软件 软件简称localAutoPVS1版本号V1.0 登记号2020SR1185337分类号- 著作权人深圳华大基因股份有限公司首次发表日期- 登记日期2020-09-29 该公司其他软件著作权 序号登记日期软件全称软件简称登记号版本号 12024-10-14基于深度残差网络和生物通路对结直肠癌患者预后分类软件-2024SR1518459...
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A further analysis of 28,586 putative loss-of-function variants by AutoPVS1 demonstrated that at least 27.6% of them do not reach a very strong strength level, with 17.4% based on variant-specific issues and 10.2% on disease mechanism considerations. Moreover, 40.7% (1,918/4,717) of ...
站长工具ICP备案提供autopvs1.bgi.com的最新备案信息,包括主办单位名称、ICP备案/许可账号、企业工商信息、已备案域名、已注销备案域名以及域名备案历史等,可以更全面地了解autopvs1.bgi.com的备案情况。
Whois 简单来说,就是一个用来查询域名是否已经被注册,以及注册域名的详细信息的数据库(如域名所有人、域名注册商、域名注册日期和过期日期等)。通过域名Whois服务器查询,可以查询域名归属者联系方式,以及注册和到期时间,可以用whois.chinaz.com访问! 关于域名到期删除规则实施的解释: ...
This is a modiifed port of the original https://github.com/JiguangPeng/autopvs1, branched from commit `7fb1be97667e5ef576f81bf2fabbddcf9a4c7594`. It was re-worked in order to work with Kids First germline annotation outputs. - D3b-autoPVS1/data/expert_cu
# D3b AutoPVS1 Use this template to bootstrap a new D3b bixu repository  ### Badges An automatic classification tool for PVS1 interpretation of null variants. This is a modifed port of the original https://github.com/JiguangPeng/autopvs1, branched ...