Lista de obras - Tobias Rausch - Dominio Público Uruguay

A consistency-based consensus algorithm for de novo and reference-guided sequence assembly of short reads

artículo científico publicado en 2009

A highly soluble Sleeping Beauty transposase improves control of gene insertion

scientific article published on 04 November 2019

A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition

artículo científico publicado en 2015

A parallel genetic algorithm to discover patterns in genetic markers that indicate predisposition to multifactorial disease

artículo científico publicado en 2008

Alfred: interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing

scientific article published on 01 July 2019

Assembly and diploid architecture of an individual human genome via single-molecule technologies

artículo científico publicado en 2015

Characterization of Two Historic Smallpox Specimens from a Czech Museum

artículo científico publicado en 2017

Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors

artículo científico publicado en 2020

Coordinated expression and genetic polymorphisms in Grainyhead-like genes in human non-melanoma skin cancers

artículo científico publicado en 2018

DELLY: structural variant discovery by integrated paired-end and split-read analysis

artículo científico publicado en 2012

Dissecting the genomic complexity underlying medulloblastoma

artículo científico publicado en 2012

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

artículo científico publicado en 2012

EMBR-10. GENOMIC COMPLEXITY AND EVOLUTION OF EMBRYONAL TUMORS WITH MULTILAYERED ROSETTES (ETMR)

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

artículo científico publicado en 2014

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

artículo científico publicado en 2012

Genomic insights into the pathogenesis of Epstein-Barr virus-associated diffuse large B-cell lymphoma by whole-genome and targeted amplicon sequencing

artículo científico publicado en 2021

Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy.

artículo científico publicado en 2017

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

scientific article published on 01 April 2020

Highly recurrent mutations of SGK1, DUSP2 and JUNB in nodular lymphocyte predominant Hodgkin lymphoma.

artículo científico publicado en 2015

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

artículo científico publicado en 2013

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia

artículo científico publicado en 2017

Identification of cytokine-induced modulation of microRNA expression and secretion as measured by a novel microRNA specific qPCR assay.

artículo científico publicado en 2015

Identification of novel follicular dendritic cell sarcoma markers, FDCSP and SRGN, by whole transcriptome sequencing.

scientific article published on 27 January 2017

Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia

artículo científico publicado en 2014

Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing

artículo científico publicado en 2012

Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer

artículo científico publicado en 2013

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

artículo científico publicado en 2015

Mapping copy number variation by population-scale genome sequencing

artículo científico publicado en 2011

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

scientific article published on 01 February 2019

Multi-platform discovery of haplotype-resolved structural variation in human genomes

artículo científico publicado en 2019

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia

scientific article published on 01 December 2018

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

scientific article published on 11 April 2022

Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation

artículo científico publicado en 2015

Potential protective role of Grainyhead-like genes in the development of clear cell renal cell carcinoma.

artículo científico publicado en 2017

Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

artículo científico publicado en 2012

Segment-based multiple sequence alignment

artículo científico publicado en 2008

Single-cell analysis of structural variations and complex rearrangements with tri-channel processing

artículo científico publicado en 2019

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

artículo científico publicado en 2018

The NSL complex maintains nuclear architecture stability via lamin A/C acetylation

artículo científico publicado en 2019

The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse

artículo científico publicado en 2014

The genomic and transcriptomic landscape of a HeLa cell line

artículo científico publicado en 2013

The molecular landscape of ETMR at diagnosis and relapse

scientific article published on 04 December 2019

ToTem: a tool for variant calling pipeline optimization.

artículo científico publicado en 2018

Tracy: basecalling, alignment, assembly and deconvolution of sanger chromatogram trace files

scientific article published on 14 March 2020

VISOR: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing

scientific article published on 01 February 2020

Lista de obras de Tobias Rausch

A consistency-based consensus algorithm for de novo and reference-guided sequence assembly of short reads

A highly soluble Sleeping Beauty transposase improves control of gene insertion

A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibition

A parallel genetic algorithm to discover patterns in genetic markers that indicate predisposition to multifactorial disease

Alfred: interactive multi-sample BAM alignment statistics, feature counting and feature annotation for long- and short-read sequencing

Assembly and diploid architecture of an individual human genome via single-molecule technologies

Characterization of Two Historic Smallpox Specimens from a Czech Museum

Chromatin accessibility landscape of pediatric T-lymphoblastic leukemia and human T-cell precursors

Coordinated expression and genetic polymorphisms in Grainyhead-like genes in human non-melanoma skin cancers

DELLY: structural variant discovery by integrated paired-end and split-read analysis

Dissecting the genomic complexity underlying medulloblastoma

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

EMBR-10. GENOMIC COMPLEXITY AND EVOLUTION OF EMBRYONAL TUMORS WITH MULTILAYERED ROSETTES (ETMR)

Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition

Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations

Genomic insights into the pathogenesis of Epstein-Barr virus-associated diffuse large B-cell lymphoma by whole-genome and targeted amplicon sequencing

Genomic structural variations lead to dysregulation of important coding and non-coding RNA species in dilated cardiomyopathy.

Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Highly recurrent mutations of SGK1, DUSP2 and JUNB in nodular lymphocyte predominant Hodgkin lymphoma.

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype

Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia

Identification of cytokine-induced modulation of microRNA expression and secretion as measured by a novel microRNA specific qPCR assay.

Identification of novel follicular dendritic cell sarcoma markers, FDCSP and SRGN, by whole transcriptome sequencing.

Identification of novel sequence variations in microRNAs in chronic lymphocytic leukemia

Impact of genomic structural variation in Drosophila melanogaster based on population-scale sequencing

Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer

MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.

Mapping copy number variation by population-scale genome sequencing

Missense variants in NOX1 and p22phox in a case of very-early-onset inflammatory bowel disease are functionally linked to NOD2

Multi-platform discovery of haplotype-resolved structural variation in human genomes

PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia

Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes

Pediatric T-cell lymphoblastic leukemia evolves into relapse by clonal selection, acquisition of mutations and promoter hypomethylation

Potential protective role of Grainyhead-like genes in the development of clear cell renal cell carcinoma.

Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing

Segment-based multiple sequence alignment

Single-cell analysis of structural variations and complex rearrangements with tri-channel processing

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

The NSL complex maintains nuclear architecture stability via lamin A/C acetylation

The activating STAT5B N642H mutation is a common abnormality in pediatric T-cell acute lymphoblastic leukemia and confers a higher risk of relapse

The genomic and transcriptomic landscape of a HeLa cell line

The molecular landscape of ETMR at diagnosis and relapse

ToTem: a tool for variant calling pipeline optimization.

Tracy: basecalling, alignment, assembly and deconvolution of sanger chromatogram trace files

VISOR: a versatile haplotype-aware structural variant simulator for short- and long-read sequencing