Exome sequencing Germ cell tumor KIT KRAS Somatic mutation Testicular cancer 1. Introduction Testicular germ cell tumors (TGCTs) are the most common cancer in young men and occur predominantly in Western populations. Striking characteristics of TGCTs are their early stem-cell origins [1] and extre...
Exome-wide sequencing shows low mutation rates and identifies novel mutated genes in seminomas. Eur Urol. 2015;68:77–83.Cutcutache I, Suzuki Y, Tan IB, Ramgopal S, Zhang S, Ramnarayanan K, Gan A, Lee HH, Tay ST, Ooi A, Ong CK, Bolthouse JT, Lane BR, Anema JG, Kahnoski RJ...
genome-wide. Despite the declining costs of next generation DNA sequencing (summarized in [3]), it remains costly enough to prohibit analyzing large portions of genomes in numerous individuals as is required for population studies (e.g. population genomics, [4]). Fortunately, with...
Mutational landscape of risk variants in comorbid depression and obesity: a next-generation sequencing approach Article 28 May 2024 Data availability The UK Biobank data are available through the UK Biobank Access Management System https://www.ukbiobank.ac.uk/. We will return the derived data ...
A method is needed to allow gene-targeted, next-generation sequencing that is flexible enough to include any gene or number of genes, unlike transcriptome sequencing. Such a method would allow sequencing of many individuals, avoiding ascertainment bias in subsequent population genetic analyses./p pWe...
Integration of DNA sequencing data with electronic health records (EHRs) could enhance our understanding of the contribution of rare genetic variation to human disease1. By leveraging 10,900 whole-exome sequences linked to EHR data in the Penn Medicine Biobank, we addressed the association of the...
the severity of the disease are still poorly understood. In this study, using whole-exome sequencing, we aimed to identify genetic variants and genes associated with severe forms of TBE as well as biological pathways through which the identified variants may influence the severity of the disease....
Bone mineral density (BMD) is an independent risk factor of osteoporosis-related fractures. We performed gene-based burden tests to assess the association
In this paper we evaluate non-haplotype alleles present within next-gen sequencing data to evaluate somatic MST variation (SMV) within DNA repair proficient and DNA repair defective cell lines. We confirm that alleles present within next-gen data that do not contribute to the haplotype can be ...
we performed a whole-exome sequencing (WES) on 449 EM individuals and 9606 controls. We find a significant excess of rare protein-truncating variants (PTVs) in EM cases, enriched in the retrograde vesicle-mediated transport pathway. Employing single-cell RNA-sequencing (scRNA-seq) and a single...