Evidence map›Paper›PMID 33711466›Full record

ArticleGenomics, proteomics & bioinformatics2022

inGAP-family: Accurate Detection of Meiotic Recombination Loci and Causal Mutations by Filtering Out Artificial Variants due to Genome Complexities.

Qichao Lian, Yamao Chen, Fang Chang, Ying Fu, Ji Qi

Abstract read
In one paragraph

Article in Genomics, proteomics & bioinformatics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

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15citing papers in PubMed
–field-weighted citation impact
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3 · Its place in the literature

Who cites it

15 citing papers in PubMed.

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  11. HEIP1 is required for efficient meiotic crossover implementation and is conserved from plants to humans.Proceedings of the National Academy of Sciences of the United States of America · 2023
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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Qichao LianState Key Laboratory of Genetic Engineering, Institute of Plant Biology, School of Life Sciences, Fudan University, Shanghai 200433, China.
Yamao ChenState Key Laboratory of Genetic Engineering, Institute of Plant Biology, School of Life Sciences, Fudan University, Shanghai 200433, China.
Fang ChangState Key Laboratory of Genetic Engineering, Institute of Plant Biology, School of Life Sciences, Fudan University, Shanghai 200433, China.
Ying FuState Key Laboratory of Genetic Engineering, Institute of Plant Biology, School of Life Sciences, Fudan University, Shanghai 200433, China.
Ji QiState Key Laboratory of Genetic Engineering, Institute of Plant Biology, School of Life Sciences, Fudan University, Shanghai 200433, China. Electronic address: qij@fudan.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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/.

Indexed as

Polymorphism, GeneticQuantitative Trait LociGene FrequencyGenotypeMutationPolymorphism, Single NucleotideSequence Analysis, DNACausal mutationGenetic mappingGenomic variationinGAP-familyMeiotic analysisStructural variation

Identifiers

PMID33711466
PMCPMC9801030

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.