The complete sequence of a human genome
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
Epigenetic patterns in a complete human genome
The completion of a telomere-to-telomere human reference genome, T2T-CHM13, has
resolved complex regions of the genome, including repetitive and homologous regions …
resolved complex regions of the genome, including repetitive and homologous regions …
Curated variation benchmarks for challenging medically relevant autosomal genes
J Wagner, ND Olson, L Harris, J McDaniel… - Nature …, 2022 - nature.com
The repetitive nature and complexity of some medically relevant genes poses a challenge
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …
Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies
Advances in long-read sequencing technologies and genome assembly methods have
enabled the recent completion of the first telomere-to-telomere human genome assembly …
enabled the recent completion of the first telomere-to-telomere human genome assembly …