[HTML][HTML] DNA damage repair: Historical perspectives, mechanistic pathways and clinical translation for targeted cancer therapy

R Huang, PK Zhou - Signal Transduction and Targeted Therapy, 2021 - nature.com
Genomic instability is the hallmark of various cancers with the increasing accumulation of
DNA damage. The application of radiotherapy and chemotherapy in cancer treatment is …

[HTML][HTML] DNA methylation aging clocks: challenges and recommendations

CG Bell, R Lowe, PD Adams, AA Baccarelli, S Beck… - Genome biology, 2019 - Springer
Epigenetic clocks comprise a set of CpG sites whose DNA methylation levels measure
subject age. These clocks are acknowledged as a highly accurate molecular correlate of …

[HTML][HTML] Duration and key determinants of infectious virus shedding in hospitalized patients with coronavirus disease-2019 (COVID-19)

JJA van Kampen, DAMC van de Vijver… - Nature …, 2021 - nature.com
Key questions in COVID-19 are the duration and determinants of infectious virus shedding.
Here, we report that infectious virus shedding is detected by virus cultures in 23 of the 129 …

[HTML][HTML] A compendium of uniformly processed human gene expression and splicing quantitative trait loci

N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …

[HTML][HTML] Engineered miniature CRISPR-Cas system for mammalian genome regulation and editing

X Xu, A Chemparathy, L Zeng, HR Kempton, S Shang… - Molecular Cell, 2021 - Elsevier
Compact and versatile CRISPR-Cas systems will enable genome engineering applications
through high-efficiency delivery in a wide variety of contexts. Here, we create an efficient …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

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 …

[HTML][HTML] The structure, function and evolution of a complete human chromosome 8

GA Logsdon, MR Vollger, PH Hsieh, Y Mao… - Nature, 2021 - nature.com
The complete assembly of each human chromosome is essential for understanding human
biology and evolution,. Here we use complementary long-read sequencing technologies to …

[HTML][HTML] 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 …

[HTML][HTML] Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

E Rheinbay, MM Nielsen, F Abascal, JA Wala… - Nature, 2020 - nature.com
The discovery of drivers of cancer has traditionally focused on protein-coding genes–. Here
we present analyses of driver point mutations and structural variants in non-coding regions …