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To obtain a high complexity library of ligation products that will ensure high resolution and depth of data, a sample of 20–25 million cells is required as input for Hi-C. [3] [4] Primary human samples, which may be available only in fewer cell numbers, could be used for standard Hi-C library preparation with as low as 1–5 million cells. [4]
As of 2006, even high-resolution CGH arrays are accurate to detect structural variations (SV) at resolution of 200 bp. [16] This method allows one to identify new recurrent chromosome changes such as microdeletions and duplications in human conditions such as cancer and birth defects due to chromosome aberrations. Figure 2.
Chromosome conformation capture-on-chip (4C) (also known as circular chromosome conformation capture) captures interactions between one locus and all other genomic loci. It involves a second ligation step, to create self-circularized DNA fragments, which are used to perform inverse PCR. Inverse PCR allows the known sequence to be used to ...
High-resolution banding involves the staining of chromosomes during prophase or early metaphase (prometaphase), before they reach maximal condensation. Because prophase and prometaphase chromosomes are more extended than metaphase chromosomes, the number of bands observable for all chromosomes ( bands per haploid set , bph; "band level ...
Human chromosomes painted with DNA from mouse chromosome 11 showing hybridization signals on human chromosomes 17, 5, 2, 7, and 22 and some other chromosomes. That is, an ancestral chromosome broke up into multiple fragments that can still be found in many human chromosomes. [32] FISH can be used to study the evolution of chromosomes. Species ...
Deletions of the long arm on chromosome 11 (del 11q) are also unfavorable although not to the degree seen with del 17p. The abnormality targets the ATM gene and occurs infrequently in CLL (5–10%). Trisomy 12, an additional chromosome 12, is a relatively frequent finding occurring in 20–25% of patients and imparts an intermediate prognosis.
Due to the high resolution and sensitivity, even small and rare molecules can be detected. The overlapping nature of the probes also allows detection of non-polyadenylated RNA and can produce a more precise picture of gene structure. [6] Earlier studies on chromosome 21 and 22 showed the power of tiling arrays for identifying transcription units.
Low-resolution physical mapping is typically capable of resolving DNA ranging from one base pair to several mega bases. In this category, most mapping methods involve generating a somatic cell hybrid panel, which is able to map any human DNA sequences, the gene of interest [clarification needed], to specific chromosomes of animal cells, such as those of mice and hamsters. [4]