Results 101 to 110 of about 1,041,152 (399)
CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data. [PDF]
PLoS ONE, 2013 Copy number alterations (CNA) are common events occurring in leukaemias and solid tumors. Comparative Genome Hybridization (CGH) is actually the gold standard technique to analyze CNAs; however, CGH analysis requires dedicated instruments and is able to ...
Rocco Piazza +10 more
doaj +1 more source
Somatic mutations render human exome and pathogen DNA more similar [PDF]
, 2019 Immunotherapy has recently shown important clinical successes in a substantial number of oncology indications. Additionally, the tumor somatic mutation load has been shown to associate with response to these therapeutic agents, and specific mutational signatures are hypothesized to improve this association, including signatures related to pathogen ...
arxiv +1 more source
Expressed exome capture sequencing: A method for cost‐effective exome sequencing for all organisms
Molecular Ecology Resources, 2018 AbstractExome capture is an effective tool for surveying the genome for loci under selection. However, traditional methods require annotated genomic resources. Here, we present a method for creating cDNA probes from expressed mRNA, which are then used to enrich and capture genomic DNA for exon regions.
Jonathan B. Puritz, Katie E. Lotterhos
openaire +4 more sources
Whole-exome sequencing study of hypospadias
iScience, 2023 Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the etiology of severe hypospadias, as these genes are related to androgen signaling.
Zhongzhong Chen +7 more
openaire +3 more sources
Molecular Oncology, EarlyView.Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker +14 more
wiley +1 more source
A decade with whole exome sequencing in haematology [PDF]
British Journal of Haematology, 2019 SummaryThe first decade of capture‐based targeted whole exome sequencing (WES) has now passed, while the sequencing modality continues to find more widespread usage in clinical research laboratories and still offers an unprecedented diagnostic assay in terms of throughput, informational content and running costs.
Marcus C. Hansen +2 more
openaire +4 more sources
Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients
Molecular Oncology, EarlyView.Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha +6 more
wiley +1 more source
BMC Genomics, 2022 Exome sequencing is becoming a routine in health care, because it increases the chance of pinpointing the genetic cause of an individual patient's condition and thus making an accurate diagnosis.
Vera Belova +8 more
doaj +1 more source
npj Genomic Medicine, 2018 Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing genetic diseases, whereas chromosomal microarray (CMA) is well established.
Michelle M. Clark +6 more
semanticscholar +1 more source
Molecular Oncology, EarlyView.This study simultaneously investigated circulating tumor cells (CTCs) and exosomes from small‐cell lung cancer (SCLC) patients. The elevated expression of JUNB and CXCR4 in CTCs was a poor prognostic factor for SCLC patients, whereas exosomal overexpression of these biomarkers revealed a high discrimination ability of patients from healthy individuals,
Dimitrios Papakonstantinou +13 more
wiley +1 more source