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A multiplex de Bruijn graph algorithm allows high-accuracy genome assembly from long, high-fidelity reads.

Compared to other sequences, extra-long tandem repeats, such as centromeres and immunoglobulin loci, are more difficult to align. This study presents UniAligner, a computational method for efficiently and accurately aligning extra-long tandem repeats, facilitating analysis of their variation and evolution.

We present the complete 62,460,029-base-pair sequence of a human Y chromosome from the HG002 genome (T2T-Y) that corrects multiple errors in GRCh38-Y and adds over 30 million base pairs of sequence to the reference.

CentroFlye resolves tandem repeats to assemble human centromeres from nanopore reads.

The complete assembly of human chromosome 8 resolves previous gaps and reveals hidden complex forms of genetic variation, enabling functional and evolutionary characterization of primate centromeres.

High-coverage, ultra-long-read nanopore sequencing is used to create a new human genome assembly that improves on the coverage and accuracy of the current reference (GRCh38) and includes the gap-free, telomere-to-telomere sequence of the X chromosome.

The work describes the validation and polishing strategies developed by the telomere-to-telomere consortium for evaluating and improving the first complete human genome assembly.