Most genetic testing of cancer cells focuses on individual point mutations, single spots in the genome where a base pair has ...

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 ...

This Collection is no longer open for submissions. Mobile elements have been found to mediate many structural variations in the genome. Expansion of whole-genome sequencing data has contributed to ...

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 ...

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 ...

The most complex engineering of human cell lines ever has been achieved by scientists, revealing that our genomes are more resilient to significant structural changes than was previously thought.

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 ...