Structural variant calling: the long and the short of it
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …
and molecular biology, elucidating their role in various diseases, regulation of gene …
Methods for mapping 3D chromosome architecture
R Kempfer, A Pombo - Nature Reviews Genetics, 2020 - nature.com
Determining how chromosomes are positioned and folded within the nucleus is critical to
understanding the role of chromatin topology in gene regulation. Several methods are …
understanding the role of chromatin topology in gene regulation. Several methods are …
Expanded encyclopaedias of DNA elements in the human and mouse genomes
The human and mouse genomes contain instructions that specify RNAs and proteins and
govern the timing, magnitude, and cellular context of their production. To better delineate …
govern the timing, magnitude, and cellular context of their production. To better delineate …
Subtype-specific 3D genome alteration in acute myeloid leukaemia
Acute myeloid leukaemia (AML) represents a set of heterogeneous myeloid malignancies,
and hallmarks include mutations in epigenetic modifiers, transcription factors and kinases …
and hallmarks include mutations in epigenetic modifiers, transcription factors and kinases …
Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration
Persistent DNA double-strand breaks (DSBs) in neurons are an early pathological hallmark
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …
Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
EagleC: A deep-learning framework for detecting a full range of structural variations from bulk and single-cell contact maps
The Hi-C technique has been shown to be a promising method to detect structural variations
(SVs) in human genomes. However, algorithms that can use Hi-C data for a full-range SV …
(SVs) in human genomes. However, algorithms that can use Hi-C data for a full-range SV …
Reference genome sequences of two cultivated allotetraploid cottons, Gossypium hirsutum and Gossypium barbadense
Allotetraploid cotton species (Gossypium hirsutum and Gossypium barbadense) have long
been cultivated worldwide for natural renewable textile fibers. The draft genome sequences …
been cultivated worldwide for natural renewable textile fibers. The draft genome sequences …
Identifying synergistic high-order 3D chromatin conformations from genome-scale nanopore concatemer sequencing
AS Deshpande, N Ulahannan, M Pendleton… - Nature …, 2022 - nature.com
Abstract High-order three-dimensional (3D) interactions between more than two genomic
loci are common in human chromatin, but their role in gene regulation is unclear. Previous …
loci are common in human chromatin, but their role in gene regulation is unclear. Previous …
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor
subtype,–. To identify novel loci, we performed a genome-wide association study including …
subtype,–. To identify novel loci, we performed a genome-wide association study including …