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A modified version of the GRCh38 human reference genome that replaces the region chr21:6427259-6580181 with "N" characters. This creates a coordinate-compatible build that removes a problematic duplication region This duplicated sequence in the original reference causes mismapping or multimapping of reads to a locus that includes the genes CBS, U2AF1, FRGCA, and CRYAA and hinders variant detection in those genes. More details are available at https://www.ncbi.nlm.nih.gov/grc/human/issues/HG-2544 This reference is useful in applications where detection of U2AF1 mutations is critical, including studies of hematological cancers, or studies of spliceosome dysfunction. A publication with more details is forthcoming.
reference_genome, fasta, human, GRCh38
reference_genome, fasta, human, GRCh38
| selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 0 | |
| popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Average | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Average |
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| downloads | 23 |

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