PMC:1892049 / 29707-30763 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/1892049","sourcedb":"PMC","sourceid":"1892049","source_url":"http://www.ncbi.nlm.nih.gov/pmc/1892049","text":"(A) Family H33; (B) family H27. Upper panel shows log R ratio and B allele frequency metrics generated from Infinium HumanHap550 arrays for an affected family member from each family. Log R ratio is the ratio of normalized, observed R to expected R for each SNP (each SNP is a blue dot) and thus serves as a surrogate of copy number at each locus. B allele frequency is a measure of the number of times the A or B alleles are detected at each locus (each SNP is denoted by a blue dot). Thus, SNPs with a B allele frequency of one are apparent B/B homozygotes, SNPs with a B allele frequency of 0.5 are apparent A/B heterozygotes, and those with a B allele frequency of zero are apparent A/A homozygotes. These plots show a contiguous region ~310 kb long (family H33) and ~350 kb long (family H27) with decreased copy number and apparent homozygosity indicative of a genomic deletion (shaded grey). The pedigrees below show the available family members assayed for these deletions, all of whom were affected and all of whom carried a deletion at this locus.","tracks":[]}