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 …
[HTML][HTML] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
Computational identification of mutator-derived lncRNA signatures of genome instability for improving the clinical outcome of cancers: a case study in breast cancer
Emerging evidence revealed the critical roles of long non-coding RNAs (lncRNAs) in
maintaining genomic instability. However, identification of genome instability-associated …
maintaining genomic instability. However, identification of genome instability-associated …
Inversion polymorphism in a complete human genome assembly
The telomere-to-telomere (T2T) complete human reference has significantly improved our
ability to characterize genome structural variation. To understand its impact on inversion …
ability to characterize genome structural variation. To understand its impact on inversion …
Complete sequencing of ape genomes
We present haplotype-resolved reference genomes and comparative analyses of six ape
species, namely: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan …
species, namely: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan …
Recurrent inversion toggling and great ape genome evolution
Inversions play an important role in disease and evolution but are difficult to characterize
because their breakpoints map to large repeats. We increased by sixfold the number (n …
because their breakpoints map to large repeats. We increased by sixfold the number (n …
[HTML][HTML] CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank
T Fitzgerald, E Birney - Cell Genomics, 2022 - cell.com
Copy number variation (CNV) is known to influence human traits, having a rich history of
research into common and rare genetic disease, and although CNV is accepted as an …
research into common and rare genetic disease, and although CNV is accepted as an …
AGAP duplicons associate with structural diversity at Chromosome 10q11. 22
S Fornezza, VS Delvecchio, WT Harvey… - Genome …, 2024 - genome.cshlp.org
The 10q11. 22 chromosomal region is a duplication-rich interval of the human genome and
one of the last to be fully assembled. It carries copy number–variable genes associated with …
one of the last to be fully assembled. It carries copy number–variable genes associated with …
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
FAM Maggiolini, AD Sanders, CJ Shew… - Genome …, 2020 - genome.cshlp.org
Rhesus macaque is an Old World monkey that shared a common ancestor with human∼ 25
Myr ago and is an important animal model for human disease studies. A deep …
Myr ago and is an important animal model for human disease studies. A deep …
Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
Y Mostovoy, F Yilmaz, SK Chow, C Chu, C Lin… - Genetics, 2021 - academic.oup.com
Segmental duplications (SDs) are a class of long, repetitive DNA elements whose paralogs
share a high level of sequence similarity with each other. SDs mediate chromosomal …
share a high level of sequence similarity with each other. SDs mediate chromosomal …