List of works - Marcel Martin

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

scientific article published in August 2013

Automatic Detection of Song Changes in Music Mixes Using Stochastic Models

scientific article published in 2006

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

scientific article

Cloche is a bHLH-PAS transcription factor that drives haemato-vascular specification

scientific article

Cutadapt removes adapter sequences from high-throughput sequencing reads

DECOMP--from interpreting Mass Spectrometry peaks to solving the Money Changing Problem.

scientific article published on 2 January 2008

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

scientific article published on 09 October 2018

Deep sequencing reveals differential expression of microRNAs in favorable versus unfavorable neuroblastoma

scientific article

Discovering motifs that induce sequencing errors

scientific article

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

scientific article

Exon-level expression analyses identify MYCN and NTRK1 as major determinants of alternative exon usage and robustly predict primary neuroblastoma outcome

scientific article

Identifying transcriptional miRNA biomarkers by integrating high-throughput sequencing and real-time PCR data

scientific article

Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete

scientific article

Next-generation RNA sequencing reveals differential expression of MYCN target genes and suggests the mTOR pathway as a promising therapy target in MYCN-amplified neuroblastoma

scientific article published on 26 September 2012

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

scientific article

Production of individualized V gene databases reveals high levels of immunoglobulin genetic diversity

scientific article (publication date: 20 December 2016)

Read-Based Phasing of Related Individuals

scientific article published on 18 January 2016

Recognition of Manual Actions Using Vector Quantization and Dynamic Time Warping

scientific article published in 2010

The SEQanswers wiki: a wiki database of tools for high-throughput sequencing analysis

scientific article

The genetic basis for ecological adaptation of the Atlantic herring revealed by genome sequencing

scientific article published on 3 May 2016

List of works by Marcel Martin

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Automatic Detection of Song Changes in Music Mixes Using Stochastic Models

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

Cloche is a bHLH-PAS transcription factor that drives haemato-vascular specification

Cutadapt removes adapter sequences from high-throughput sequencing reads

DECOMP--from interpreting Mass Spectrometry peaks to solving the Money Changing Problem.

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

Deep sequencing reveals differential expression of microRNAs in favorable versus unfavorable neuroblastoma

Discovering motifs that induce sequencing errors

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

Exon-level expression analyses identify MYCN and NTRK1 as major determinants of alternative exon usage and robustly predict primary neuroblastoma outcome

Identifying transcriptional miRNA biomarkers by integrating high-throughput sequencing and real-time PCR data

Massive parallel bisulfite sequencing of CG-rich DNA fragments reveals that methylation of many X-chromosomal CpG islands in female blood DNA is incomplete

Next-generation RNA sequencing reveals differential expression of MYCN target genes and suggests the mTOR pathway as a promising therapy target in MYCN-amplified neuroblastoma

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Production of individualized V gene databases reveals high levels of immunoglobulin genetic diversity

Read-Based Phasing of Related Individuals

Recognition of Manual Actions Using Vector Quantization and Dynamic Time Warping

The SEQanswers wiki: a wiki database of tools for high-throughput sequencing analysis

The genetic basis for ecological adaptation of the Atlantic herring revealed by genome sequencing