Search Results - "Kocher, Jean‐Pierre A."
-
1
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…”
Get full text
Journal Article -
2
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…”
Get full text
Journal Article -
3
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…”
Get full text
Journal Article -
4
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…”
Get full text
Journal Article -
5
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…”
Get full text
Journal Article -
6
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…”
Get full text
Journal Article -
7
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…”
Get full text
Journal Article -
8
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…”
Get full text
Journal Article -
9
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…”
Get full text
Journal Article -
10
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…”
Get full text
Journal Article -
11
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…”
Get full text
Journal Article -
12
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…”
Get full text
Journal Article -
13
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…”
Get full text
Journal Article -
14
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…”
Get full text
Journal Article -
15
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…”
Get full text
Journal Article -
16
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…”
Get full text
Journal Article -
17
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…”
Get full text
Journal Article -
18
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…”
Get full text
Journal Article -
19
Aberrant immunohistochemical expression of CD4 as a rare finding in metastatic melanoma
Published in Journal of cutaneous pathology (01-12-2020)Get full text
Journal Article -
20
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…”
Get full text
Journal Article