Panel sequencing
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Panel gene sequencing is an established diagnostic tool for precision oncology of solid tumors, but its utility for the treatment of cancers of the digestive system in clinical routine is less well documented.
10p vishanshan 27-06-2024 1 1 Download
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Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels.
14p vibransone 28-03-2024 4 2 Download
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Here, we present the Northeast Asian Reference Database (NARD), including whole-genome sequencing data of 1779 individuals from Korea, Mongolia, Japan, China, and Hong Kong. NARD provides the genetic diversity of Korean (n = 850) and Mongolian (n = 384) ancestries that were not present in the 1000 Genomes Project Phase 3 (1KGP3).
10p vibransone 28-03-2024 2 2 Download
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The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant classification.
19p vibransone 28-03-2024 3 1 Download
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Intertumoral heterogeneity represents a significant hurdle to identifying optimized targeted therapies in gastric cancer (GC). To realize precision medicine for GC patients, an actionable gene alteration-based molecular classification that directly associates GCs with targeted therapies is needed.
12p vioraclene 31-03-2024 5 2 Download
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Next-generation sequencing (NGS) of cancer gene panels are widely applied to enable personalized cancer therapy and to identify novel oncogenic mutations. Methods: We performed targeted NGS on 932 clinical cases of non-small-cell lung cancers (NSCLCs) using the Ion AmpliSeq™ Cancer Hotspot panel v2 assay.
11p vioraclene 31-03-2024 3 2 Download
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Newborn screening aims to identify individual patients who could benefit from early management, treatment, and/or surveillance practices. As sequencing technologies have progressed and we move into the era of precision medicine, genomic sequencing has been introduced to this area with the hopes of detecting variants related to a vastly expanded number of conditions.
13p vibransone 28-03-2024 7 2 Download
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Circulating tumor DNA (ctDNA) offers minimally invasive means to repeatedly interrogate tumor genomes, providing opportunities to monitor clonal dynamics induced by metastasis and therapeutic selective pressures. In metastatic cancers, ctDNA profiling allows for simultaneous analysis of both local and distant sites of recurrence. Despite the promise of ctDNA sampling, its utility in real-time genetic monitoring remains largely unexplored.
17p vibransone 28-03-2024 3 2 Download
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Mutational signatures are key to understanding the processes that shape cancer genomes, yet their analysis requires relatively rich whole-genome or whole-exome mutation data. Recently, orders-of-magnitude sparser gene-panelsequencing data have become increasingly available in the clinic.
12p vibransone 28-03-2024 4 2 Download
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Hundreds of thousands of cancer patients have had targeted (panel) tumor sequencing to identify clinically meaningful mutations. In addition to improving patient outcomes, this activity has led to significant discoveries in basic and translational domains.
14p vibransone 28-03-2024 2 2 Download
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Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disap‑ pointingly low, at 25–30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome.
25p vicwell 29-02-2024 3 1 Download
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Triple-negative breast cancer (TNBC) is a heterogenous subtype involving different patterns of behavior and clinical course, demanding a complex, individualized sequence of treatment. The knowledge and attitudes of the affiliated members of the Brazilian Society of Mastology regarding TNBC were evaluated and a consensus regard‑ ing management and treatment was reached.
12p vileonardodavinci 23-12-2023 5 2 Download
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Precision medicine with gene panel testing based on next-generation sequencing for patients with cancer is being used increasingly in clinical practice. HER2, which encodes the human epidermal growth factor receptor 2 (HER2), is a potentially important driver gene. However, therapeutic strategies aimed at mutations in the HER2 extracellular domain have not been clarified.
11p vischultz 20-10-2023 2 1 Download
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Molecular subtypes predict prognosis in muscle-invasive bladder cancer (MIBC) and are explored as predictive markers. To provide a common base for molecular subtyping and facilitate clinical applications, a consensus classification has been developed.
10p visharma 20-10-2023 3 2 Download
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Endometrial carcinoma (EC) is one of the most commonly diagnosed gynecologic malignancy in China. However, the genetic profile of Chinese EC patients has not been well established yet. In current study, 158 Chinese EC patients were subjected to next-generation sequencing assay (74 took testing of EC-related 20-genes panel, and 84 took the expanded panel).
15p vioracle 29-09-2023 5 2 Download
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Glycogen storage diseases (GSDs) are rare inherited metabolic disorders characterized by the absence of required enzymes for the glycogen degradation metabolism. GSD can be divided into more than 12 types based on enzyme deficiency and affected tissues, in which glycogen storage disease type Ia (GSD1a or von Gierke disease) is a liver-affecting form.
7p vimulcahy 18-09-2023 6 3 Download
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The availability of high-density (HD) marker panels, genome wide variants and sequence data creates an unprecedented opportunity to dissect the genetic basis of complex traits, enhance genomic selection (GS) and identify causal variants of disease.
10p vinarcissa 21-03-2023 5 1 Download
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Increasing grain yield is a primary objective of maize breeding. Dissecting the genetic architecture of grain yield furthers genetic improvements to increase yield. Presented here is an association panel composed of 126 maize inbreds (AM126), which were genotyped by the genotyping-by-sequencing (tGBS) method.
12p vihagrid 30-01-2023 8 3 Download
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It becomes clear that the increase in the density of marker panels and even the use of sequence data didn’t result in any meaningful increase in the accuracy of genomic selection (GS) using either regression (RM) or variance component (VC) approaches. This is in part due to the limitations of current methods.
10p vihagrid 30-01-2023 8 3 Download
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Safflower is an underutilized and minor oilseed crop that received less attention from the scientific community compared to other oilseed crops like soybean and sunflower. Exploring the genetic basis associated with agronomic traits is crucial for markerassisted breeding of safflower. A genome-wide association study was conducted using a total of 12,232 DArTseq markers to identify the marker-trait association for important agronomic traits in an international safflower panel derived from 26 different geographical countries of the world.
18p lyhuyenthu 31-01-2023 7 2 Download