Description="SNPs found in clusters">##FILTER=<ID=my_snp_filter,Description="QUAL<30||QD < 2.0 || FS > 60.0 || MQ < 40.0">##FORMAT=<ID=AD,Number=.,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">##FORMAT=<ID=DP,Number=1,Type...
##INFO=<ID=TYPE,Number=A,Type=String,Description="The type of allele, either snp, mnp, ins, del, or complex."> ##INFO=<ID=CIGAR,Number=A,Type=String,Description="The extended CIGAR representation of each alternate allele, with the exception that '=' is replaced by 'M' to ease VCF ...
dbSNP(单核苷酸多态性数据库,Database of Single Nucleotide Polymorphisms)是由NCBI(美国国家生物技术信息中心,National Center for Biotechnology Information)负责维护和管理的全球性变异数据库。 核心功能与特性 唯一标识符(rsID) dbSNP为每个变异分配一个唯一的参考标识符rsID(Reference SNP cluster ID),如rs533316401,...
SNPTB is one such pipeline that analyzes WGS data originating from in vitro or clinical samples of Mycobacterium tuberculosis and outputs high-confidence single nucleotide polymorphisms in the bacterial genome. The name of the mutated gene and the functional consequence of the mutation on the gene ...
A universal SNP and small-indel variant caller using deep neural networks Despite rapid advances in sequencing technologies, accurately calling genetic variants present in an individual genome from billions of short, errorful sequence reads remains challenging. Here we show that a deep convolutional ...
后面的分析中,对于每一个变异位点假设只有二等位形式——注意:这和一个ActiveRegion中存在多种单体型不矛盾,若一个ActiveRegion在群体中存在n个变异位点,在只考虑二等位形式的前提下,该区域具有的单体型总共有$2^n$种 下面来推导某个样本中的某一个变异位点最可能的SNP形式 该样本在该位点的genotype为G的后验概...
开发者ID:googlegenomics,项目名称:denovo-variant-caller-java,代码行数:20,代码来源:VariantsBuffer.java 示例2: isSnp ▲点赞 3▼ importcom.google.api.services.genomics.model.VariantCall;//导入依赖的package包/类/** Is variant, call pair a snp ...
We aimed to evaluate the impact of the major non-synonymous SNP Q141K on lysosomal and proteasomal degradations.关键词: KEY WORDS ABCG2 endoplasmic reticulum associated degradation (ERAD) proteasome SNP ubiquitin DOI: 10.1007/s11095-008-9752-7 被引量: 322 ...
开发者ID:verilylifesciences,项目名称:genomewarp,代码行数:18,代码来源:TransformationUnit.java 示例2: processElement importcom.google.genomics.v1.Variant;//导入方法依赖的package包/类@ProcessElementpublicvoidprocessElement(ProcessContext context){
超多重 PCR 扩增技术和新一代测序仪的Ion AmpliSeq™ Cancer HotSpot Panel v2，仅使用10ng DNA 即可一次筛 查约2800种突变，通过正常读取数据和突变读取数据直 接比对，可以计算突变率。另一方面，使用经典Sanger 测序时，难以检测出低于25%的低频突变。而本应用手 册中介绍的Applied biosystems™ Minor ...