Volume 583 Issue 7814, 2 July 2020
Article | 27 May 2020
Mapping and characterization of structural variation in 17,795 human genomes
Structural variants in more than 17,000 human genomes are mapped and characterized using whole-genome sequencing, showing how this type of variation contributes to rare deleterious coding and noncoding alleles.
Haley J. Abel, David E. Larson[…] & Ira M. Hall