The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing …

Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …

Recent advances in whole-genome sequencing have brought the vision of personal
genomics and genomic medicine closer to reality. However, current methods lack clinical …

The availability of a high quality human genome assembly has revolutionized biomedical
research. Genomics has now entered the realm of clinical genetics, with many groups using …

Whole-genome sequencing is becoming commonplace, but the accuracy and completeness
of variant calling by the most widely used platforms from Illumina and Complete Genomics …

The human genome is diploid, and knowledge of the variants on each chromosome is
important for the interpretation of genomic information. Here we report the assembly of a …

Asked how mature the field of genome assembly is, Ian Korf at the University of California,
Davis, compares it to a teenager with great capabilities.“It's got bold assertions about what it …

We present the first comprehensive analysis of a diploid human genome that combines
single-molecule sequencing with single-molecule genome maps. Our hybrid assembly …

Here we use whole-genome de novo assembly of second-generation sequencing reads to
map structural variation (SV) in an Asian genome and an African genome. Our approach …

Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations
such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from …