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 …
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 …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
An efficient CRISPR–Cas12a promoter editing system for crop improvement
J Zhou, G Liu, Y Zhao, R Zhang, X Tang, L Li, X Jia… - Nature Plants, 2023 - nature.com
Promoter editing represents an innovative approach to introduce quantitative trait variation
(QTV) in crops. However, an efficient promoter editing system for QTV needs to be …
(QTV) in crops. However, an efficient promoter editing system for QTV needs to be …
CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
M Schubach, T Maass, L Nazaretyan… - Nucleic acids …, 2024 - academic.oup.com
Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …
assessment of clinical findings and is employed to prioritize variants in diverse genetic …
Graph-based pan-genome reveals structural and sequence variations related to agronomic traits and domestication in cucumber
Structural variants (SVs) represent a major source of genetic diversity and are related to
numerous agronomic traits and evolutionary events; however, their comprehensive …
numerous agronomic traits and evolutionary events; however, their comprehensive …
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 …
In situ genome sequencing resolves DNA sequence and structure in intact biological samples
INTRODUCTION Genomes are spatially organized across length scales from single base
pairs to whole chromosomes. This organization is thought to regulate gene expression and …
pairs to whole chromosomes. This organization is thought to regulate gene expression and …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …