Bird genomes are the smallest among amniotes; however, they remain challenging to assemble due to their structural complexity. This study presents a fully phased diploid telomere-to-telomere reference genome for the zebra finch (Taeniopygia guttata), a model organism for neuroscience and evolutionary genomics. Combinin...
G. Formenti, Nivesh Jain, Jack A. Medico et al.· Cell· 1 citation
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
A pangenome reference overcomes the inherent limitation of any individual reference genome by integrating the variation present in a population. We present the Human Pangenome Reference Consortium’s (HPRC) Release 2 (HPRC2), an openly available, second phase pangenome that is an approximately fivefold expansion in geno...
Julian K. Lucas, Prajna Hebbar, Wen-Wei Liao et al.· bioRxiv· 1 citation
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