Summary African genomes are marked by extensive complexity in the number and distribution of variants yet remain under-represented in genetic databases and the human reference genome. This gap in representation limits the broad application of genomic medicine. Sickle cell disease (SCD)—one of the most common monogenic...
Pamela D. Lurie, M. Mahmoud, Aparna Haldipur et al.· HGG advances· 0 citations
The Genome in a Bottle (GIAB) Consortium’s HG002 v5.0q benchmark set is presented, a more comprehensive variant benchmark derived from a fully phased, highly curated, and accurate diploid assembly of HG002 to provide confident small- and structural-variant calls across previously inaccessible regions.
Nathan D. Olson, Nathan Dwarshuis, Nancy F. Hansen et al.· bioRxiv· 1 citation
This complete genome of a songbird serves as a public reference and illuminates avian genome architecture and function and suggests that birds possess a kinetochore-associated CENP system similar to that of mammals.
G. Formenti, Nivesh Jain, Jack A. Medico et al.· Cell· 2 citations
A telomere-to-telomere genome benchmark with near-perfect accuracy across 99.4% of the diploid HG002 genome is presented, expanding the reach of genomic medicine to the entire genome and enabling a new era of personalized genomics.
Nancy F. Hansen, Nathan Dwarshuis, Hyun Joo Ji et al.· Cell· 8 citations
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