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 …

Cellular barcoding to decipher clonal dynamics in disease

VG Sankaran, JS Weissman, LI Zon - Science, 2022 - science.org
Cellular barcodes are distinct DNA sequences that enable one to track specific cells across
time or space. Recent advances in our ability to detect natural or synthetic cellular barcodes …

Most large structural variants in cancer genomes can be detected without long reads

ZN Choo, JM Behr, A Deshpande, K Hadi, X Yao… - Nature Genetics, 2023 - nature.com
Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …

Proteogenomics of different urothelial bladder cancer stages reveals distinct molecular features for papillary cancer and carcinoma in situ

Z Yao, N Xu, G Shang, H Wang, H Tao, Y Wang… - Nature …, 2023 - nature.com
The progression of urothelial bladder cancer (UC) is a complicated multi-step process. We
perform a comprehensive multi-omics analysis of 448 samples from 190 UC patients …

Developing a multiepitope vaccine for the prevention of SARS-CoV-2 and monkeypox virus co-infection: a reverse vaccinology analysis

F Jiang, Y Liu, Y Xue, P Cheng, J Wang, J Lian… - International …, 2023 - Elsevier
Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and
monkeypox virus (MPXV) severely threaten human health; however, currently, no vaccine …

[HTML][HTML] APOBEC-mediated mutagenesis is a favorable predictor of prognosis and immunotherapy for bladder cancer patients: evidence from pan-cancer analysis and …

R Shi, X Wang, Y Wu, B Xu, T Zhao, C Trapp… - Theranostics, 2022 - ncbi.nlm.nih.gov
Background: The APOBEC (apolipoprotein B mRNA editing enzyme, catalytic polypeptide-
like) family-mediated mutagenesis is widespread in human cancers. However, our …

Immunoinformatics-based potential multi-peptide vaccine designing against Jamestown Canyon Virus (JCV) capable of eliciting cellular and humoral immune …

M Shahab, S Aiman, A Alshammari, AF Alasmari… - International Journal of …, 2023 - Elsevier
Jamestown Canyon virus (JCV) is a deadly viral infection transmitted by various mosquito
species. This mosquito-borne virus belongs to Bunyaviridae family, posing a high public …

Emerging promise of computational techniques in anti-cancer research: at a glance

MM Rahman, MR Islam, F Rahman, MS Rahaman… - Bioengineering, 2022 - mdpi.com
Research on the immune system and cancer has led to the development of new medicines
that enable the former to attack cancer cells. Drugs that specifically target and destroy …

Integrated bioinformatics and validation reveal IL1B and its related molecules as potential biomarkers in chronic spontaneous urticaria

S Peng, T Zhang, S Zhang, Q Tang, Y Yan… - Frontiers in …, 2022 - frontiersin.org
Background The etiopathogenesis of chronic spontaneous urticaria (CSU) has not been fully
understood, and there has been extensive interest in the interaction between inflammatory …

Single-mitosis dissection of acute and chronic DNA mutagenesis and repair

PA Ginno, H Borgers, C Ernst, A Schneider, M Behm… - Nature Genetics, 2024 - nature.com
How chronic mutational processes and punctuated bursts of DNA damage drive evolution of
the cancer genome is poorly understood. Here, we demonstrate a strategy to disentangle …