Search Results - "Schlesinger, Felix"
-
1
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
Published in Bioinformatics (15-04-2016)“…: We describe Manta, a method to discover structural variants and indels from next generation sequencing data. Manta is optimized for rapid germline and…”
Get full text
Journal Article -
2
STAR: ultrafast universal RNA-seq aligner
Published in Bioinformatics (01-01-2013)“…Accurate alignment of high-throughput RNA-seq data is a challenging and yet unsolved problem because of the non-contiguous transcript structure, relatively…”
Get full text
Journal Article -
3
The reality of pervasive transcription
Published in PLoS biology (01-07-2011)“…In parallel, whole chromosome tiling array interrogation of the RNA content of a variety of human tissues and cell lines revealed that, collectively, at least…”
Get full text
Journal Article -
4
Paragraph: a graph-based structural variant genotyper for short-read sequence data
Published in Genome Biology (19-12-2019)“…Accurate detection and genotyping of structural variations (SVs) from short-read data is a long-standing area of development in genomics research and clinical…”
Get full text
Journal Article -
5
Synthetic spike-in standards for RNA-seq experiments
Published in Genome research (01-09-2011)“…High-throughput sequencing of cDNA (RNA-seq) is a widely deployed transcriptome profiling and annotation technique, but questions about the performance of…”
Get full text
Journal Article -
6
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Published in Bioinformatics (01-11-2019)“…Abstract Summary We describe a novel computational method for genotyping repeats using sequence graphs. This method addresses the long-standing need to…”
Get full text
Journal Article -
7
Developmental Validation of the MiSeq FGx Forensic Genomics System for Targeted Next Generation Sequencing in Forensic DNA Casework and Database Laboratories
Published in Forensic science international : genetics (01-05-2017)“…Graphical abstract…”
Get full text
Journal Article -
8
Evidence for compensatory upregulation of expressed X-linked genes in mammals, Caenorhabditis elegans and Drosophila melanogaster
Published in Nature genetics (01-12-2011)“…Brian Oliver, Jason Lieb, Christine Disteche and colleagues present an analysis of expression data in mammals, C. elegans and Drosophila . They conclude that…”
Get full text
Journal Article -
9
De novo DNA demethylation and noncoding transcription define active intergenic regulatory elements
Published in Genome research (01-10-2013)“…Deep sequencing of mammalian DNA methylomes has uncovered a previously unpredicted number of discrete hypomethylated regions in intergenic space (iHMRs). Here,…”
Get full text
Journal Article -
10
Abstract LB-329: Enhancing the resolution and accelerating the pace of translational fusion characterization in oncology by RNA sequencing
Published in Cancer research (Chicago, Ill.) (15-07-2016)“…Abstract Chromosomal rearrangements are common markers of cancer progression across a wide range of cancer types, and therefore, identification of fusion…”
Get full text
Journal Article -
11
Results of the “Evaluation of NGS in AML-Diagnostics (ELAN)” Study – an Inter-Laboratory Comparison Performed in 10 European Laboratories
Published in Blood (06-12-2014)“…Background: The invention of Next Generation Sequencing (NGS) has spurred research into human diseases, especially in the field of malignancy. In acute myeloid…”
Get full text
Journal Article -
12
Detection of Novel Fusion Transcript VTI1A-CFAP46 in Hepatocellular Carcinoma
Published in Gastrointestinal Tumors (01-08-2019)“…Background: Hepatocellular carcinoma (HCC) is now the second-highest cause of cancer death worldwide. Recent studies have discovered a wide range of somatic…”
Get full text
Journal Article