Detection of somatic mutations in cell-free DNA (cfDNA) is challenging due to low variant allele frequencies and extensive DNA degradation. Here we develop a benchmarking strategy using longitudinal ...
Pangenome graphs 1 represent aligned haplotype sequences. Each node in the graph is labeled with a sequence, and each path represents the sequence obtained by concatenating the node labels. While any ...
A new genomic method has enabled multiple people with rare conditions to receive diagnoses that were previously unattainable by identifying complex structural genetic changes that are often missed by ...