Figure 3
Figure 3. Determination of acquired versus germline nature of CN-LOH. Acquired CN-LOH (red bar, top left) is identified when allelic imbalance (as shown by genotyping calls) with normal copy number (top track) in bone marrow and not CD3+ cells (representing the germline configuration). Top left: An example of acquired CN-LOH of chromosome 7. A region of homozygosity and diploid copy number (as indicated by the red bar) are seen in bone marrow only. Top right: An example of germline CN-LOH of chromosome 20. Runs of homozygosity (red bars) are present in both bone marrow and CD3+ cells. Among a cohort of 1003 healthy controls, CN-LOH was mainly interstitial (bottom left) and ranged in size from 0.3 to 65 Mb (median, 8.7 Mb; bottom center). Bottom right: The distribution of nonclonal, germline CN-LOH in controls on an exemplary chromosome (chromosome 6).

Determination of acquired versus germline nature of CN-LOH. Acquired CN-LOH (red bar, top left) is identified when allelic imbalance (as shown by genotyping calls) with normal copy number (top track) in bone marrow and not CD3+ cells (representing the germline configuration). Top left: An example of acquired CN-LOH of chromosome 7. A region of homozygosity and diploid copy number (as indicated by the red bar) are seen in bone marrow only. Top right: An example of germline CN-LOH of chromosome 20. Runs of homozygosity (red bars) are present in both bone marrow and CD3+ cells. Among a cohort of 1003 healthy controls, CN-LOH was mainly interstitial (bottom left) and ranged in size from 0.3 to 65 Mb (median, 8.7 Mb; bottom center). Bottom right: The distribution of nonclonal, germline CN-LOH in controls on an exemplary chromosome (chromosome 6).

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