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12 lut 2010 · An illustrative example is inv(10)(q11.22q21.1), a 12 Mb inversion with a carrier frequency of 0.11% in the Swedish population, but with no consistent phenotype . Breakpoint and haplotype analysis indicated that this is a rare variant in the population, originating from a single founder event.
28 wrz 2010 · Inversions are a diverse class of chromsomal mutation. The majority are small (<1KB) . Others, for example the famous 3RP inversion of Drosophila melanogaster, are several megabases in size, include several percent of the entire genome and span hundreds or thousands of genes .
Inversions are structural mutations that reverse the sequence of a chromosome segment and reduce the effective rate of recombination in the heterozygous state. They play a major role in adaptation, as well as in other evolutionary processes such as speciation.
17 wrz 2019 · One particularly interesting example is HsInv0201, an old inversion (>1.5 Mya) with intermediate frequency around the globe and clear signals of balancing selection (Fig. 6a), which deletes an...
20 maj 2022 · Inversions are a type of variant that can occur in our genomes. They are part of a group of changes known as ‘structural rearrangements’ that include deletions (where large sections of DNA are missing), repeats (or copy number variants) and translocations within the genome.
12 sty 2022 · A pure inversion is a mutation that replaces a segment of the genome with its reverse complement sequence. Inversions are routinely found in studies of genetic variation both within species 1...
6 mar 2017 · We characterize 16 recurrent subclasses of complex SV (cxSV), revealing that: (1) cxSV are larger and rarer than canonical SV; (2) each genome harbors 14 large cxSV on average; (3) 84.4% of large cxSVs involve inversion; and (4) most large cxSV (93.8%) have not been delineated in previous studies.
