公开(公告)号：US20140194300A1

公开(公告)日：2014-07-10

申请号：US14240955

申请日：2012-08-24

申请人： Luting Song ,  Di Shao ,  Zequn Zheng ,  Zhijun Zheng ,  Kui Wu ,  Shuheng Liang ,  Ye Tao ,  Yong Hou

发明人： Luting Song ,  Di Shao ,  Zequn Zheng ,  Zhijun Zheng ,  Kui Wu ,  Shuheng Liang ,  Ye Tao ,  Yong Hou

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6869 ,  C12Q1/6874 ,  C12Q1/6881 ,  C12Q2600/172 ,  G06F19/20 ,  G06F19/22

摘要： Provided are the method and device for genetic map construction and the method and device for haplotype determination of a single cell. Wherein the method for genetic map construction includes: whole genome sequencing for at least a single cell from a same species, aligning the sequencing data to reference sequences respectively to determine genotypes of SNP sites, determining male parent a/female parent b typing results of SNP genotypes of a single cell based on the genotypes of SNP sites, dividing the chromosome of the species into linkage regions based on the male parent a/female parent b typing results of SNP genotypes, determining the variation ratio of a/b between two linkage regions to obtain recombination rate between every two continuous linkage regions, determining recombination map of a single cell according to the recombination rate, wherein the boundary site of a and b is the recombination site, determining the recombination rate of each recombination rate based on the recombination map to construct a genetic map of the species.

摘要翻译： 提供遗传图谱构建的方法和装置以及单细胞单体型确定的方法和装置。 遗传图谱构建方法包括：对同一物种的至少一个细胞进行全基因组测序，分别将测序数据与参照序列进行比对，以确定SNP位点的基因型，确定SNP的雄性亲本a /雌性亲本B分型结果 基于SNP位点基因型的单细胞基因型，根据SNP基因型的雄性亲本a /雌性亲本B分型结果将该物种的染色体分为连锁区，确定两个连锁区之间a / b的变异比 以获得每两个连续连锁区域之间的重组率，根据复合率确定单个细胞的重组图谱，其中a和b的边界位点是重组位点，基于重组图确定每个重组速率的重组率 构建该物种的遗传图谱。

公开(公告)号：US20140188397A1

公开(公告)日：2014-07-03

申请号：US14118109

申请日：2011-05-17

申请人： BGI Tech Solutions Co., Ltd.

发明人： Wei Fan ,  Binghang Liu ,  Zhenyu Li ,  Jun Wang

IPC分类号： G06F19/10

CPC分类号： G16B99/00 ,  G16B30/00

摘要： Provided is a method of acquiring genome size. The method comprises steps of sequencing random fragments of whole genome, acquiring all of k-mer information including k-mer depth, counting frequency of each k-mer depth value so as to determine expected k-mer depth, and acquiring the genome size by dividing the sum of k-mers by the expected k-mer depth. The method is convenient, rapid, and cost-effective. Also provided is a method of acquiring error of sequencing genome based on all of k-mer information including k-mer depth.

摘要翻译： 提供了获取基因组大小的方法。 该方法包括对全基因组随机片段进行测序的步骤，获取所有k-mer信息，包括k-mer深度，每个k-mer深度值的计数频率，以便确定预期的k-mer深度，以及通过 将k-mers的总和除以预期的k-mer深度。 该方法方便快捷，性价比高。 还提供了基于包括k-mer深度的所有k-mer信息来获取测序基因组的错误的方法。