Lista de obras -

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

artículo científico publicado en 2013

BESST--efficient scaffolding of large fragmented assemblies.

artículo científico publicado en 2014

CTNND2-a candidate gene for reading problems and mild intellectual disability

artículo científico publicado en 2014

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

scientific article published on 08 February 2019

De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

artículo científico publicado en 2018

De novo assembly of Dekkera bruxellensis: a multi technology approach using short and long-read sequencing and optical mapping

artículo científico publicado en 2015

De novoassembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

Development and performance of a next generation sequencing (NGS) assay for monitoring of mixed chimerism

artículo científico publicado en 2020

ERNE-BS5

Efficient de novo assembly of large and complex genomes by massively parallel sequencing of Fosmid pools

artículo científico publicado en 2014

Estimating the rate of index hopping on the Illumina HiSeq X platform

Evolutionary history of host use, rather than plant phylogeny, determines gene expression in a generalist butterfly

artículo científico publicado en 2016

Fast, accurate, and lightweight analysis of BS-treated reads with ERNE 2.

artículo científico publicado en 2016

Feature-by-Feature – Evaluating De Novo Sequence Assembly ⬇️

artículo científico publicado el 3 de febrero de 2012

GAM-NGS: genomic assemblies merger for next generation sequencing

artículo científico publicado en 2013

GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.

artículo científico publicado en 2014

GapFiller: a de novo assembly approach to fill the gap within paired reads

artículo científico publicado en 2012

Hierarchical Assembly of Pools

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

artículo científico publicado en 2018

Index hopping on the Illumina HiseqX platform and its consequences for ancient DNA studies

scientific article published on 08 March 2019

Recommendations on e-infrastructures for next-generation sequencing

artículo científico publicado en 2016

Reevaluating assembly evaluations with feature response curves: GAGE and assemblathons

artículo científico publicado en 2012

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

artículo científico publicado en 2018

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

artículo científico publicado en 2017

T-cell receptor-HLA-DRB1 associations suggest specific antigens in pulmonary sarcoidosis.

artículo científico publicado en 2015

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

artículo científico

The Norway spruce genome sequence and conifer genome evolution

artículo científico publicado en 2013

Transcriptomics and methylomics of CD4-positive T cells in arsenic-exposed women

artículo científico publicado en 2016

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

artículo científico publicado en 2016

rNA: a fast and accurate short reads numerical aligner

artículo científico publicado en 2011

Lista de obras de

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species

BESST--efficient scaffolding of large fragmented assemblies.

CTNND2-a candidate gene for reading problems and mild intellectual disability

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

De novo assembly of Dekkera bruxellensis: a multi technology approach using short and long-read sequencing and optical mapping

De novoassembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

Development and performance of a next generation sequencing (NGS) assay for monitoring of mixed chimerism

ERNE-BS5

Efficient de novo assembly of large and complex genomes by massively parallel sequencing of Fosmid pools

Estimating the rate of index hopping on the Illumina HiSeq X platform

Evolutionary history of host use, rather than plant phylogeny, determines gene expression in a generalist butterfly

Fast, accurate, and lightweight analysis of BS-treated reads with ERNE 2.

Feature-by-Feature – Evaluating De Novo Sequence Assembly ⬇️

GAM-NGS: genomic assemblies merger for next generation sequencing

GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.

GapFiller: a de novo assembly approach to fill the gap within paired reads

Hierarchical Assembly of Pools

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.

Index hopping on the Illumina HiseqX platform and its consequences for ancient DNA studies

Recommendations on e-infrastructures for next-generation sequencing

Reevaluating assembly evaluations with feature response curves: GAGE and assemblathons

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.

T-cell receptor-HLA-DRB1 associations suggest specific antigens in pulmonary sarcoidosis.

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

The Norway spruce genome sequence and conifer genome evolution

Transcriptomics and methylomics of CD4-positive T cells in arsenic-exposed women

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

rNA: a fast and accurate short reads numerical aligner