T2T-CHM13 improves read mapping and detection of clinically relevant genetic variation in the Swedish population

(Downloading may take up to 30 seconds. If the slide opens in your browser, select File -> Save As to save it.)

Click on image to view larger version.

Figure 1.
Figure 1.

General mapping statistics for all 1000 samples. (A) Distribution of the total number of unmapped reads. (B) Percentage of unmapped reads per individual. (C) Percentage of mapped read pairs that were properly paired, that is, both mates were mapped with the expected distance and orientation. (D) Mismatch rate, that is, the fraction of mapped bases that did not match the reference. (E) Number of mappings with quality 0, that is, not mapping uniquely. (F) Percentage of mappings that had quality 0. MQ0 = mapping quality 0.

This Article

  1. Published in Advance September 16, 2025, doi: 10.1101/gr.279320.124 Genome Res. 35: 2377-2388

Preprint Server



Current Issue

  1. March 2026, 36 (3)
  1. Current Issue
  1. Alert me to new issues of Genome Research