Search Results - "Torcivia, John"
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Whole genome sequencing of live attenuated Leishmania donovani parasites reveals novel biomarkers of attenuation and enables product characterization
Published in Scientific reports (05-07-2017)“…No licensed human vaccines are currently available against leishmaniasis. Several anti-leishmanial vaccines are currently undergoing testing, including…”
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Exploring and retrieving sequence and metadata for species across the tree of life with NCBI Datasets
Published in Scientific data (05-07-2024)“…To explore complex biological questions, it is often necessary to access various data types from public data repositories. As the volume and complexity of…”
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Investigation of somatic single nucleotide variations in human endogenous retrovirus elements and their potential association with cancer
Published in PloS one (01-04-2019)“…Human endogenous retroviruses (HERVs) have been investigated for potential links with human cancer. However, the distribution of somatic nucleotide variations…”
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NCBI taxonomy: enhanced access via NCBI datasets
Published in Nucleic acids research (29-10-2024)“…The NCBI Taxonomy resource (https://www.ncbi.nlm.nih.gov/taxonomy) has long been a trusted, curated hub for organism names, classifications, and links to…”
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Whole Genome Variant Dataset for Enriching Studies across 18 Different Cancers
Published in Onco (01-06-2022)“…Whole genome sequencing (WGS) has helped to revolutionize biology, but the computational challenge remains for extracting valuable inferences from this…”
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An Exploration of Cancer-Associated Non-Coding Variations in Whole Genome Sequencing Data
Published 01-01-2020“…Genomics has benefited from an explosion in affordable high-throughput technology for whole genome sequencing. The regulatory and functional aspects in…”
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Dissertation -
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BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery
Published in Nucleic acids research (04-01-2018)“…Abstract Single-nucleotide variation and gene expression of disease samples represent important resources for biomarker discovery. Many databases have been…”
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Abstract 3824: Human pan-cancer variomes and their epigenetic profiles: Extending beyond the coding region
Published in Cancer research (Chicago, Ill.) (01-08-2015)“…Abstract The identification on different cancer lines of non-synonymous single nucleotide variations (nsSNVs) has exploded as sequencing technology has…”
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A complete Leishmania donovani reference genome identifies novel genetic variations associated with virulence
Published in Scientific reports (08-11-2018)“…Leishmania donovani is responsible for visceral leishmaniasis, a neglected and lethal parasitic disease with limited treatment options and no vaccine. The…”
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Distribution bias analysis of germline and somatic single-nucleotide variations that impact protein functional site and neighboring amino acids
Published in Scientific reports (08-02-2017)“…Single nucleotide variations (SNVs) can result in loss or gain of protein functional sites. We analyzed the effects of SNVs on enzyme active sites, ligand…”
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A Primer for Access to Repositories of Cancer-Related Genomic Big Data
Published in Methods in molecular biology (Clifton, N.J.) (01-01-2019)“…The use of large datasets has become ubiquitous in biomedical sciences. Researchers in the field of cancer genomics have, in recent years, generated large…”
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Pubcast and Genecast: Browsing and Exploring Publications and Associated Curated Content in Biology Through Mobile Devices
Published in IEEE/ACM transactions on computational biology and bioinformatics (01-03-2017)“…Services such as Facebook, Amazon, and eBay were once solely accessed from stationary computers. These web services are now being used increasingly on mobile…”
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High-performance integrated virtual environment (HIVE): a robust infrastructure for next-generation sequence data analysis
Published in Database : the journal of biological databases and curation (2016)“…The High-performance Integrated Virtual Environment (HIVE) is a distributed storage and compute environment designed primarily to handle next-generation…”
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Journal Article