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View article: Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus Open
The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. The 15q11-q13 locus is a hotspot …
View article: A high-resolution map of small-scale inversions in the gibbon genome
A high-resolution map of small-scale inversions in the gibbon genome Open
Gibbons are the most speciose family of living apes, characterized by a diverse chromosome number and rapid rate of large-scale rearrangements. Here we performed single-cell template strand sequencing (Strand-seq), molecular cytogenetics, …
View article: Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution Open
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 understanding of its genetics is therefore required for both biomedical and evolu…
View article: A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information
A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information Open
Background Human mitochondrial DNA has an important role in the cellular energy production through oxidative phosphorylation. Therefore, this process may be the cause and have an effect on mitochondrial DNA mutability, functional alteratio…