Advances and trends in omics technology development

X Dai, L Shen - Frontiers in Medicine, 2022 - frontiersin.org
The human history has witnessed the rapid development of technologies such as high-
throughput sequencing and mass spectrometry that led to the concept of “omics” and …

Chromatin accessibility profiling by ATAC-seq

FC Grandi, H Modi, L Kampman, MR Corces - Nature protocols, 2022 - nature.com
The assay for transposase-accessible chromatin using sequencing (ATAC-seq) provides a
simple and scalable way to detect the unique chromatin landscape associated with a cell …

Genome evolution and diversity of wild and cultivated potatoes

D Tang, Y Jia, J Zhang, H Li, L Cheng, P Wang, Z Bao… - Nature, 2022 - nature.com
Potato (Solanum tuberosum L.) is the world's most important non-cereal food crop, and the
vast majority of commercially grown cultivars are highly heterozygous tetraploids. Advances …

Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads

K Shafin, T Pesout, PC Chang, M Nattestad… - Nature …, 2021 - nature.com
Long-read sequencing has the potential to transform variant detection by reaching currently
difficult-to-map regions and routinely linking together adjacent variations to enable read …

Variant calling and benchmarking in an era of complete human genome sequences

ND Olson, J Wagner, N Dwarshuis, KH Miga… - Nature Reviews …, 2023 - nature.com
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes

K Shafin, T Pesout, R Lorig-Roach, M Haukness… - Nature …, 2020 - nature.com
De novo assembly of a human genome using nanopore long-read sequences has been
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …

Structural variant calling: the long and the short of it

M Mahmoud, N Gobet, DI Cruz-Dávalos, N Mounier… - Genome biology, 2019 - Springer
Recent research into structural variants (SVs) has established their importance to medicine
and molecular biology, elucidating their role in various diseases, regulation of gene …

Long-range enhancer–promoter contacts in gene expression control

S Schoenfelder, P Fraser - Nature Reviews Genetics, 2019 - nature.com
Spatiotemporal gene expression programmes are orchestrated by transcriptional
enhancers, which are key regulatory DNA elements that engage in physical contacts with …

Methods for map** 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 …

Genomic diversifications of five Gossypium allopolyploid species and their impact on cotton improvement

ZJ Chen, A Sreedasyam, A Ando, Q Song… - Nature …, 2020 - nature.com
Polyploidy is an evolutionary innovation for many animals and all flowering plants, but its
impact on selection and domestication remains elusive. Here we analyze genome evolution …