Target capture sequencing
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Hepatocellular carcinoma (HCC) genomic research has discovered actionable genetic changes that might guide treatment decisions and clinical trials. Nonetheless, due to a lack of large-scale multicenter clinical validation, these putative targets have not been converted into patient survival advantages.
12p vikoch 27-06-2024 1 1 Download
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Head spot is one of the phenotypes identified in the KFRS4/Kyo rat strain. Although previous linkage analysis suggested that Ednrb, which is frequently involved in coat color variations in various animals, could be the gene responsible for this phenotype, no mutations have been identified in its coding region.
8p vinarcissa 21-03-2023 3 1 Download
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Monogenic diabetes is a genetic disease often caused by mutations in genes involved in beta-cell function. Correct sub-categorization of the disease is a prerequisite for appropriate treatment and genetic counseling.
9p vinarcissa 21-03-2023 5 1 Download
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Targeted deep sequencing is increasingly used to detect low-allelic fraction variants; it is therefore essential that errors that constitute baseline noise and impose a practical limit on detection are characterized. In the present study, we systematically evaluate the extent to which errors are incurred during specific steps of the capture-based targeted sequencing process.
13p vialfrednobel 29-01-2022 8 0 Download
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The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation. Here, we report development and testing of a probe set for whole exome sequencing (WES) to detect sequence variants in exons and UTRs of the rat genome.
14p vibeauty 23-10-2021 10 1 Download
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Infectious disease is the single greatest threat to taxa such as amphibians (chytrid fungus), bats (white nose syndrome), Tasmanian devils (devil facial tumor disease), and black-footed ferrets (canine distemper virus, plague). Although understanding the genetic basis to disease susceptibility is important for the long-term persistence of these groups, most research has been limited to major-histocompatibility and Toll-like receptor genes.
10p vibeauty 23-10-2021 13 1 Download
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Pteropods are planktonic gastropods that are considered as bio-indicators to monitor impacts of ocean acidification on marine ecosystems. In order to gain insight into their adaptive potential to future environmental changes, it is critical to use adequate molecular tools to delimit species and population boundaries and to assess their genetic connectivity.
14p vijeeni2711 24-07-2021 6 0 Download
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Next generation sequencing (NGS) can recover DNA data from valuable extant and extinct museum specimens. However, archived or preserved DNA is difficult to sequence because of its fragmented, damaged nature, such that the most successful NGS methods for preserved specimens remain sub-optimal.
10p vijeeni2711 24-07-2021 3 0 Download
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The development of genome-wide genotyping resources has provided terrestrial livestock and crop industries with the unique ability to accurately assess genomic relationships between individuals, uncover the genetic architecture of commercial traits, as well as identify superior individuals for selection based on their specific genetic profile.
16p vijeeni2711 30-06-2021 13 1 Download
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Orang-utans comprise three critically endangered species endemic to the islands of Borneo and Sumatra. Though whole-genome sequencing has recently accelerated our understanding of their evolutionary history, the costs of implementing routine genome screening and diagnostics remain prohibitive.
9p vilichoo2711 25-06-2021 12 1 Download
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As a powerful tool in whole genome analysis, tiling array has been widely used in the answering of many genomic questions. Now it could also serve as a capture device for the library preparation in the popular high throughput sequencing experiments.
11p viwyoming2711 16-12-2020 9 1 Download
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Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy number variations (CNVs) contribute significantly to human genomic variability, some of which can lead to disease. However, effective detection of CNVs from targeted capture sequencing data remains challenging.
9p vioklahoma2711 19-11-2020 8 0 Download
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Eye movement evaluation is vital for diagnosis of various ophthalmological and neurological disorders. The present study proposes a novel, noninvasive, wearable device to acquire the eye movement based on a Fiber Bragg Grating (FBG) Sensor. The proposed Fiber Bragg Grating Eye Tracker (FBGET) can capture the displacement of the eyeball during its movements in the form of strain variations on a cantilever.
10p caygaocaolon1 13-11-2019 28 2 Download
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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries...
15p thulanh22 20-11-2011 40 1 Download
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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families...
11p thulanh22 20-11-2011 34 1 Download