Cancer genomes harbor extensive somatic genetic and epigenetic variation, yet large portions of the genome remain inaccessible to conventional reference-based analyses. Here, we demonstrate that pairing a near-telomere-to-telomere (near-T2T) diploid assembly of a donor with deep short- and long-read sequencing of their...
Min-Hwan Sohn, Danilo Dubocanin, M. Vollger et al.· Cell· 0 citations
GRAPHICAL ABSTRACT Structural variants (SVs) are a major source of human genetic diversity, yet their contribution to three-dimensional (3D) genome organization remains difficult to resolve using a standard reference genome. Here, we integrate haplotype-resolved chromatin interaction maps across 354 human and 12 nonhum...
L. Ni, Jia-Dong Lin, DongAhn Yoo et al.· bioRxiv· 0 citations
The common marmoset is a New World monkey (NWM) commonly used as a model organism to investigate questions in primate evolution and human disease, including Alzheimer’s and other neurodegenerative diseases, as well as neuropsychiatric disorders. Here we present the first telomere-to-telomere (T2T) reference genome for...
Prajna Hebbar, Tamara A. Potapova, Hailey Loucks et al.· bioRxiv· 0 citations
It is hypothesized that dCDRs may weaken kinetochore function, increasing nondisjunction risk, and proposed two models linking such epigenetic variation to maternal age-related T21 risk are proposed.
F. K. Mastrorosa, K. Hoekzema, M. Ayllon et al.· bioRxiv· 0 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
LGvar is presented, a divergence-aware tool for identifying SVs in population-scale and cross-species genome assemblies, enabling up to a 7-fold increase in the detection of large deletions, insertions, inversions and complex rearrangements.
The pangenome provides unparalleled specificity to understand genetic variation in SD genes allowing us to distinguish functional genes from pseudogenes and highlighting potential gene innovations that arose most recently in human evolution.
Luyao Ren, DongAhn Yoo, Katarina Vlajic et al.· bioRxiv· 0 citations
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