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BAF values in this range make the duplication call very clear for both a HMM algorithm and a graphical review.
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To gain further confidence in the duplication calls on 5q35.1, we extracted and viewed BAF and LRR values derived from the Perlegen 600 k data for the CNV region and flanking diploid regions (Figure 2).
We observed an average of 83 SNPs throughout the duplicated region in these ranges which are all highly supportive of a duplication call.
Our studies focus on the events that occur at the starting points of chromosome duplication, called origins of DNA replication.
To test this, we applied hierarchical clustering to 11 944 high-quality germline deletion and duplication calls (≤1 Mb).
The duplication of names calls for clarification.
The duplication of DNA is called DNA replication, and it is initiated by complex enzymes called DNA polymerases.
The MYD88 L265P mutation in the discovery case with the 3q duplication was called in only one third of the reads (14 of 50) by the WES analysis, so likely the mutation is located on the non-duplicated region of chromosome 3. Somatic mutations identified in the discovery cases are shown in Table 2.
Humberstone discusses the notions of duplication preservation and interiority (although he calls the duplication preserving properties qualitative properties) and suggests that we have two interesting distinctions here, each of which can do some philosophical work, and there is not much interest in the issue of which of them is called the distinction between intrinsic and extrinsic properties.
The number of duplication vertices of R(T, S) is called the duplication cost of R(T, S).
Whole-genome sequencing reveals the duplication of a regulatory region, called an enhancer, of the AR gene in treatment-resistant human prostate cancers.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com