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cluster SV 和 CV 相关算法

cluster

为什么关注聚类

k-means

原理

相关内容

  • Start with suitable choices of K cluster mean-vectors. Then iterate the following two steps:
  • For each object, find the closest mean vector and assign the the object to the corresponding cluster.
  • For each cluster, update its mean vector according to the current assignments.
  • Convergence is easy stop when cluster assignment no longer changes
  • The choice of initial values is more difficult

Hierarchical Clustering

Produce a nested sequence of clusters, a tree, also called Dendrogram

结构变异 Genomic alterations

癌症中尤为明显

适合用 circos 来展示

SV

Mechanisms of SVs

  • NAHR - non-allelic homologous recombination
  • NHEJ - joining of DNA double-strand breaks without extensive sequence homology by ligation of DNA ends
  • Breakage-fusion-bridge (BFB)
  • Telomere loss or double-strand breakage creates an unprotected DNA end
  • Ligation of broken chromatid ends connects the two sister chromatids
  • Chromothripsis: A large number of genomic rearrangements have been acquired in a single catastrophic event

用高通量数据 short reads 来探测 SV

一些具体方法(可参考原始文献)

通过以下四个信息来进行预测

  • read pairs
  • read depth
  • split reads
  • and also assembly of the reads into contig

Copy number alterations (CV)

Use network flow to find out the traversal in the genome with CNAs

  • Aneuploidy 非整倍体,染色体中出现非整倍体的变化,癌症中很常见

  • Quantify allele-specific SVs and CNAs 软件:Weaver


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