Search Results - "Kocher, Jean Pierre A"
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Linnorm: improved statistical analysis for single cell RNA-seq expression data
Published in Nucleic acids research (15-12-2017)“…Linnorm is a novel normalization and transformation method for the analysis of single cell RNA sequencing (scRNA-seq) data. Linnorm is developed to remove…”
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Measure transcript integrity using RNA-seq data
Published in BMC bioinformatics (03-02-2016)“…Stored biological samples with pathology information and medical records are invaluable resources for translational medical research. However, RNAs extracted…”
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CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro
Published in Nature communications (21-10-2022)“…A GGGGCC 24+ hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and…”
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Combining copy number, methylation markers, and mutations as a panel for endometrial cancer detection via intravaginal tampon collection
Published in Gynecologic oncology (01-02-2020)“…We aimed to assess whether endometrial cancer (EC) can be detected in shed DNA collected with vaginal tampon by analyzing copy number, methylation markers, and…”
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Early genetic aberrations in patients with sporadic colorectal cancer
Published in Molecular carcinogenesis (01-01-2018)“…Chromosome instability (CIN) is widely observed in both sporadic and hereditary colorectal cancer (CRC). Defects in APC and WNT signaling are primarily…”
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The Biological Reference Repository (BioR): a rapid and flexible system for genomics annotation
Published in Bioinformatics (Oxford, England) (01-07-2014)“…The Biological Reference Repository (BioR) is a toolkit for annotating variants. BioR stores public and user-specific annotation sources in indexed…”
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PB-Motif—A Method for Identifying Gene/Pseudogene Rearrangements With Long Reads: An Application to CYP21A2 Genotyping
Published in Frontiers in genetics (28-07-2021)“…Long read sequencing technologies have the potential to accurately detect and phase variation in genomic regions that are difficult to fully characterize with…”
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3' tag digital gene expression profiling of human brain and universal reference RNA using Illumina Genome Analyzer
Published in BMC genomics (16-11-2009)“…Massive parallel sequencing has the potential to replace microarrays as the method for transcriptome profiling. Currently there are two protocols: full-length…”
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HiChIP: a high-throughput pipeline for integrative analysis of ChIP-Seq data
Published in BMC bioinformatics (15-08-2014)“…Chromatin immunoprecipitation (ChIP) followed by next-generation sequencing (ChIP-Seq) has been widely used to identify genomic loci of transcription factor…”
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Transcriptional atlas of cardiogenesis maps congenital heart disease interactome
Published in Physiological genomics (01-07-2014)“…Mammalian heart development is built on highly conserved molecular mechanisms with polygenetic perturbations resulting in a spectrum of congenital heart…”
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SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations
Published in PloS one (16-12-2013)“…Structural variation (SV) represents a significant, yet poorly understood contribution to an individual's genetic makeup. Advanced next-generation sequencing…”
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A novel bioinformatics pipeline for identification and characterization of fusion transcripts in breast cancer and normal cell lines
Published in Nucleic acids research (01-08-2011)“…SnowShoes-FTD, developed for fusion transcript detection in paired-end mRNA-Seq data, employs multiple steps of false positive filtering to nominate fusion…”
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Hybrid-denovo: a de novo OTU-picking pipeline integrating single-end and paired-end 16S sequence tags
Published in Gigascience (01-03-2018)“…Illumina paired-end sequencing has been increasingly popular for 16S rRNA gene-based microbiota profiling. It provides higher phylogenetic resolution than…”
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HGT-ID: an efficient and sensitive workflow to detect human-viral insertion sites using next-generation sequencing data
Published in BMC bioinformatics (17-07-2018)“…Transfer of genetic material from microbes or viruses into the host genome is known as horizontal gene transfer (HGT). The integration of viruses into the…”
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CircularLogo: A lightweight web application to visualize intra-motif dependencies
Published in BMC bioinformatics (22-05-2017)“…The sequence logo has been widely used to represent DNA or RNA motifs for more than three decades. Despite its intelligibility and intuitiveness, the…”
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Multilevel Parallelization of AutoDock 4.2
Published in Journal of cheminformatics (28-04-2011)“…Background Virtual (computational) screening is an increasingly important tool for drug discovery. AutoDock is a popular open-source application for performing…”
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The impact of pharmacokinetic gene profiles across human cancers
Published in BMC cancer (21-05-2018)“…The right drug to the right patient at the right time is one of the ideals of Individualized Medicine (IM) and remains one of the most compelling promises of…”
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Murine leukemia virus uses NXF1 for nuclear export of spliced and unspliced viral transcripts
Published in Journal of virology (01-04-2014)“…Intron-containing mRNAs are subject to restricted nuclear export in higher eukaryotes. Retroviral replication requires the nucleocytoplasmic transport of both…”
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Aberrant immunohistochemical expression of CD4 as a rare finding in metastatic melanoma
Published in Journal of cutaneous pathology (01-12-2020)Get full text
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A data science approach for the classification of low-grade and high-grade ovarian serous carcinomas
Published in BMC genomics (27-11-2018)“…Copy Number Alternations (CNAs) is defined as somatic gain or loss of DNA regions. The profiles of CNAs may provide a fingerprint specific to a tumor type or…”
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