Accurately identifying DNA polymorphisms can bridge the gap between phenotypes and genotypes and is essential for molecular marker assisted genetic studies.Genome complexities,including large-scale structural variatio...Accurately identifying DNA polymorphisms can bridge the gap between phenotypes and genotypes and is essential for molecular marker assisted genetic studies.Genome complexities,including large-scale structural variations,bring great challenges to bioinformatic analysis for obtaining high-confidence genomic variants,as sequence differences between non-allelic loci of two or more genomes can be misinterpreted as polymorphisms.It is important to correctly filter out artificial variants to avoid false genotyping or estimation of allele frequencies.Here,we present an efficient and effective framework,inGAP-family,to discover,filter,and visualize DNA polymorphisms and structural variants(SVs)from alignment of short reads.Applying this method to polymorphism detection on real datasets shows that elimination of artificial variants greatly facilitates the precise identification of meiotic recombination points as well as causal mutations in mutant genomes or quantitative trait loci.In addition,inGAP-family provides a user-friendly graphical interface for detecting polymorphisms and SVs,further evaluating predicted variants and identifying mutations related to genotypes.It is accessible at https://sourceforge.net/projects/ingap-family/.展开更多
基金supported by grants from the National Natural Science Foundation of China(Grant Nos.32070247 and 31770244 to JQ)funds from the State Key Laboratory of Genetic Engineering at Fudan University,China.
文摘Accurately identifying DNA polymorphisms can bridge the gap between phenotypes and genotypes and is essential for molecular marker assisted genetic studies.Genome complexities,including large-scale structural variations,bring great challenges to bioinformatic analysis for obtaining high-confidence genomic variants,as sequence differences between non-allelic loci of two or more genomes can be misinterpreted as polymorphisms.It is important to correctly filter out artificial variants to avoid false genotyping or estimation of allele frequencies.Here,we present an efficient and effective framework,inGAP-family,to discover,filter,and visualize DNA polymorphisms and structural variants(SVs)from alignment of short reads.Applying this method to polymorphism detection on real datasets shows that elimination of artificial variants greatly facilitates the precise identification of meiotic recombination points as well as causal mutations in mutant genomes or quantitative trait loci.In addition,inGAP-family provides a user-friendly graphical interface for detecting polymorphisms and SVs,further evaluating predicted variants and identifying mutations related to genotypes.It is accessible at https://sourceforge.net/projects/ingap-family/.
