Paolo Carnevali

TL;DR: A genome sequencing platform that achieves efficient imaging and low reagent consumption with combinatorial probe anchor ligation chemistry to independently assay each base from patterned nanoarrays of self-assembling DNA nanoballs is described.

TL;DR: In this article, the authors present an approach for calling variations in a sample polynucleotide sequence compared to a reference polynotide sequence. But the approach is limited to the case where a likelihood exists that one or more bases of the sample polyclotide sequence are changed from corresponding bases in the reference polyclonal sequence.

TL;DR: The Human Pangenome Reference Consortium (HPC) as mentioned in this paper was formed with the goal of creating high-quality, cost-effective, diploid genome assemblies for a pangeneome reference that represents human genetic diversity.

TL;DR: In this article, the authors present methods, apparatuses, and systems for identification of junctions (e.g., resulting from large-scale rearrangements) of a sequenced genome with respect to a human genome reference sequence.

TL;DR: In this paper, a variant score is used to determine a variant calibrated score indicating a likelihood that the variant call is correct, which can be used for determining a variant relative to a reference.