Lista de obras - Marcel Martin - Dominio Público Uruguay

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

artículo científico publicado en 2013

Automatic Detection of Song Changes in Music Mixes Using Stochastic Models

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Cutadapt removes adapter sequences from high-throughput sequencing reads

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

Discovering motifs that induce sequencing errors

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Read-Based Phasing of Related Individuals

artículo científico publicado en 2016

Recognition of Manual Actions Using Vector Quantization and Dynamic Time Warping

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Lista de obras de 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