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]

open access: yesPLoS 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]

open access: yes, 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

open access: yesMolecular 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

open access: yesiScience, 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

Clinical applications of next‐generation sequencing‐based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression

open access: yesMolecular 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]

open access: yesBritish 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

open access: yesMolecular 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

Performance comparison of Agilent new SureSelect All Exon v8 probes with v7 probes for exome sequencing

open access: yesBMC 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

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

open access: yesnpj 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

Integrative analysis of circulating tumor cells (CTCs) and exosomes from small‐cell lung cancer (SCLC) patients: a comprehensive approach

open access: yesMolecular 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

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