Tag: COSMIC

Hubble captures a galactic menagerie

Credit: ESA/Hubble & NASA, H. Ebeling; Acknowledgment: L. Shatz The NASA/ESA Hubble Space Telescope captured this massive galaxy cluster, called Abell 1351, with its Wide Field Camera 3 and Advanced Camera for Surveys. Abell 1351 lies in the constellation Ursa Major in the northern hemisphere. This image is filled with…

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Genetic and chemotherapeutic influences on germline hypermutation

DNM filtering in 100,000 Genomes Project We analysed DNMs called in 13,949 parent–offspring trios from 12,609 families from the rare disease programme of the 100,000 Genomes Project. The rare disease cohort includes individuals with a wide array of diseases, including neurodevelopmental disorders, cardiovascular disorders, renal and urinary tract disorders, ophthalmological…

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Mining Curated Databases for Literature in VSClinical

Curated databases are a real-time saver when compiling published evidence to support your variant evaluations and classifications. Leveraging the curated databases at your fingertips in our VSClinical variant interpretation hub is even more efficient. Not only does VSClinical provides users with automated variant classification for germline variants according to the…

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Bioinformatics Data Engineer in Boston, MA for Dana-Farber Cancer Institute

Details Posted: 27-Apr-22 Location: Boston, Massachusetts Salary: Open Categories: Staff/Administrative Internal Number: 2022-26005 Located in Boston and the surrounding communities, Dana-Farber Cancer Institute (DFCI) brings together world renowned clinicians, innovative researchers and dedicated professionals, allies in the common mission of conquering cancer, HIV/AIDS and related diseases. Combining extremely talented people…

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VCV001049045.1 – ClinVar – NCBI

The TBP p.Gln87_Gln95del variant was not identified in the literature nor was it identified in dbSNP, ClinVar, Cosmic or LOVD 3.0. The variant was also not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or…

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Genetic characteristics involving the PD-1/PD-L1/L2 and CD73/A2aR axes and the immunosuppressive microenvironment in DLBCL

Key messages What is already known on this topic Targeting immunosuppressive pathways have emerged as promising strategies for cancer treatment. The genetic characteristics of PD-1/PD-L1/L2 (programmed cell death protein 1/programmed cell death ligand 1/ligand 2) and CD73/A2aR (A2a adenosine receptor) and the effect of these two signalings on dysfunctional CD8+…

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[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-meta-hwe-5.13/5.13.0.32.35~20.04.18)

All autopkgtests for the newly accepted linux-meta-hwe-5.13 (5.13.0.32.35~20.04.18) for focal have finished running. The following regressions have been reported in tests triggered by the package: nvidia-graphics-drivers-340/340.108-0ubuntu5.20.04.2 (amd64) systemd/245.4-4ubuntu3.15 (ppc64el, s390x, amd64) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding…

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Associate Director, Bioinformatics Job Opening in Wilmington, DE at Incyte Corporation

Incyte is a biopharmaceutical company focused on the discovery, development, and commercialization of novel medicines to meet serious unmet medical needs in oncology and inflammation and autoimmunity. Incyte is committed to the rigorous pursuit of research and development excellence to improve the lives of patients, make a difference in health…

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The $11-billion Webb telescope aims to probe the early Universe

Lisa Dang wasn’t even born when astronomers started planning the most ambitious and complex space observatory ever built. Now, three decades later, NASA’s James Webb Space Telescope (JWST) is finally about to launch, and Dang has scored some of its first observing time — in a research area that didn’t…

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[Kernel-packages] [Bug 1786013] Autopkgtest regression report (linux-meta-gke-5.4/5.4.0.1057.60~18.04.22)

All autopkgtests for the newly accepted linux-meta-gke-5.4 (5.4.0.1057.60~18.04.22) for bionic have finished running. The following regressions have been reported in tests triggered by the package: kpatch/0.5.0-0ubuntu1.1 (amd64) lxc/3.0.3-0ubuntu1~18.04.1 (amd64) Please visit the excuses page listed below and investigate the failures, proceeding afterwards as per the StableReleaseUpdates policy regarding autopkgtest regressions…

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Single-cell DNA and RNA sequencing reveals the dynamics of intra-tumor heterogeneity in a colorectal cancer model | BMC Biology

Organoid culture of small intestinal cells and lentiviral transduction C57BL/6J mice and BALB/cAnu/nu immune-deficient nude mice were purchased from CLEA Japan (Tokyo, Japan). The small intestine was harvested from wild-type male C57BL/6J mice at 3–5 weeks of age (Additional file 1: Figure S9A). Crypts were purified and dissociated into single cells,…

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Dissemination of Mycobacterium abscessus via global transmission networks

Dataset construction, cluster identification and definition of DCCs Whole genome sequencing of two collections of isolates from Manchester, UK, and the Netherlands was carried out as previously described2. Briefly, DNA was extracted from colony sweeps of subcultured samples before to paired-end sequencing using the Illumina HiSeq platform. These samples were…

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Genes in Space: Students’ experiments could help humans travel in deep space

Students Aarthi Vijayakumar, Rebecca Li, Michelle Sung and David Li won the competition in 2018, and their project became the Genes in Space-6 experiment. The student team’s investigation made history. For the first time in space, NASA astronauts successfully edited DNA using CRISPR/Cas9 technology while working on the Genes in…

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GitHub – HaoWuLab-Bioinformatics/wu-group: ECSWalk

GitHub – HaoWuLab-Bioinformatics/wu-group: ECSWalk Files Permalink Failed to load latest commit information. Type Name Latest commit message Commit time ECSWalk: A carcinogenic driver module detection method based on a network model. Data used in this study: In our research, we used data processed by Rafsan Ahmed, et al. and Mark…

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Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection | Genome Biology

Stochastic Amplicon Ligation. DNA samples for oncology sequencing are typically extracted from FFPE tissues and can have average lengths of less than 500 nt due to accumulated chemical damage [18]. We developed the Stochastic Amplicon Ligation (SAL) method to enzymatically concatenate many short DNA molecules together to utilize the long-read…

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Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastoma

Significance The collection of large amounts of whole-genome sequencing data allowed for identification of mutational signatures, which are characteristic combinations of substitutions in the context of neighboring bases. The clinical significance of these mutational signatures is still largely unknown. In neuroblastoma, we showed that high levels of cytosine > adenine…

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Predicting and characterizing a cancer dependency map of tumors with deep learning

INTRODUCTION The development of novel cancer therapies requires knowledge of specific biological pathways to target individual tumors and eradicate cancer cells. Toward this goal, the landscape of genetic vulnerabilities of cancer, or the cancer dependency map, is being systematically profiled. Using RNA interference (RNAi) loss-of-function screens, Marcotte et al. (1),…

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Gritstone bio hiring Scientist, bioinformatics in Cambridge, Massachusetts, United States

Gritstone bio is a public, next-generation immuno-oncology and infectious disease focused company. The company is leveraging its antigen discovery machine learning platform EDGETM to define targets for personalized and shared immuno-oncology therapies, as well as for developing vaccines for infectious diseases such as COVID-19. Gritstone bio is seeking a Bioinformatics…

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