Article

A reference-quality, fully annotated genome from a Puerto Rican individual

2021-06-11

Abstract excerpt

Until 2019, the human genome was available in only one fully-annotated version, GRCh38, which was the result of 18 years of continuous improvement and revision. Despite dramatic improvements in sequencing technology, no other genome was available as an annotated reference until 2019, when the genome of an Ashkenazi individual, Ash1, was released. In this study, we describe the assembly and annotation of a second i...

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Literature Corpus work: 25a56fd7-7563-5dbe-a101-46e676f60fdb
DOI: 10.1101/2021.06.10.447952

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