Researchers at Baylor College of Medicine’s Dan L Duncan Comprehensive Cancer Center and Human Genome Sequencing Center investigated the extent to which forms of genetic variation called germline or ...

Chong’s study, “Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak,” was recently published in Nature Communications. UAB researchers have developed a ...

Since the first sequencing of a human genome more than 20 years ago, the study of human genomes has relied almost exclusively on a single reference genome to which others are compared to identify ...

Retrotransposons are pivotal in human genome evolution, driving structural variation and regulatory innovation while influencing health and disease.

Genome assemblies from 65 individuals, representing a variety of the world’s populations, are advancing the scientific exploration of complex genetic structural variation. Structural variations are ...

Researchers have significantly expanded the catalogue of known human genetic variation. The resulting datasets, shared in two back-to-back publications in the journal Nature, constitute what may be ...

Giraffe, a new mapping algorithm developed by scientists at the University of California (UC), Santa Cruz, Genomics Institute can efficiently map individual sequencing reads to a pangenome reference ...