Genetic variant calling from DNA sequencing has enabled understanding of germline variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
M Menzel, S Ossowski, S Kral, P Metzger… - NPJ Precision …, 2023 - nature.com
A growing number of druggable targets and national initiatives for precision oncology necessitate broad genomic profiling for many cancer patients. Whole exome sequencing …
Mosaic variants (MVs) reflect mutagenic processes during embryonic development and environmental exposure, accumulate with aging and underlie diseases such as cancer and …
YJ Ha, S Kang, J Kim, J Kim, SY Jo, S Kim - Nature Methods, 2023 - nature.com
Rapid advances in sequencing and analysis technologies have enabled the accurate detection of diverse forms of genomic variants represented as heterozygous, homozygous …
Y Wang, J Wang, W Fang, X Xiao, Q Wang… - Frontiers in …, 2023 - frontiersin.org
A high tumor mutation burden (TMB) is known to drive the response to immune checkpoint inhibitors (ICI) and is associated with favorable prognoses. However, because it is a one …
High-throughput sequencing data enables the comprehensive study of genomes and the variation therein. Essential for the interpretation of this genomic data is a thorough …
T Zhang, H Jia, T Song, L Lv, DC Gulhan, H Wang… - Genome Medicine, 2023 - Springer
Identifying expressed somatic mutations from single-cell RNA sequencing data de novo is challenging but highly valuable. We propose RESA–Recurrently Expressed SNV Analysis, a …
Germline mutations are the ultimate source of genetic variation and the raw material for organismal evolution. Despite their significance, the frequency and genomic locations of …
In silico approaches for next-generation sequencing (NGS) data modeling have utility in the clinical laboratory as a tool for clinical assay validation. In silico NGS data can take a variety …