2-kupl: mapping-free variant detection from DNA-seq data of matched samples.

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作者： Yunfeng,Wang ^[1] ; Haoliang,Xue ^[2] ; Christine,Pourcel ^[1] ; Yang,Du ^[1] ; Daniel,Gautheret ^[2]

作者单位： Institute of Integrative Cell Biology (I2BC), Université Paris-Saclay, CNRS, CEA, 1 avenue de la Terrasse, 91190, Gif-sur-Yvette, France. ^[1] Annoroad Gene Technology Co., Ltd, Beijing, 100176, China. ^[2] Institute of Integrative Cell Biology (I2BC), Université Paris-Saclay, CNRS, CEA, 1 avenue de la Terrasse, 91190, Gif-sur-Yvette, France. daniel.gautheret@universite-paris-saclay.fr. ^[3] IHU PRISM, Gustave Roussy, 114 rue Edouard Vaillant, 94800, Villejuif, France. daniel.gautheret@universite-paris-saclay.fr. ^[4]

关键词 Contigs DNAseq Mapping-free PRAD Recurrent variants WES WGS k-mers

主题词 DNA(DNA);基因组, 人(Genome, Human);基因组学(Genomics);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);序列分析, DNA(Sequence Analysis, DNA)

DOI 10.1186/s12859-021-04185-6

PMID 34090332

发布时间 2023-09-20

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