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Marcel Martin
Marcel Martin
Verified email at scilifelab.se
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Cutadapt removes adapter sequences from high-throughput sequencing reads
M Martin
EMBnet. journal 17 (1), pp. 10-12, 2011
251732011
Bioconda: Sustainable and comprehensive software distribution for the life sciences
R Dale, B Grüning, A Sjödin, J Rowe, BA Chapman, CH Tomkins-Tinch, ...
Nature Methods 15 (7), 475-476, 2018
7892018
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
M Martin, L Maßhöfer, P Temming, S Rahmann, C Metz, N Bornfeld, ...
Nature genetics 45 (8), 933-936, 2013
5622013
Computational pan-genomics: status, promises and challenges
Briefings in bioinformatics 19 (1), 118-135, 2016
3222016
WhatsHap: fast and accurate read-based phasing
M Martin, M Patterson, S Garg, S Fischer, N Pisanti, GW Klau, ...
bioRxiv, 085050, 2016
2402016
A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
D Wieczorek, N Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ...
Human molecular genetics 22 (25), 5121-5135, 2013
2372013
Deep sequencing reveals differential expression of microRNAs in favorable versus unfavorable neuroblastoma
JH Schulte, T Marschall, M Martin, P Rosenstiel, P Mestdagh, S Schlierf, ...
Nucleic acids research 38 (17), 5919-5928, 2010
2222010
Atropos: specific, sensitive, and speedy trimming of sequencing reads
JP Didion, M Martin, FS Collins
PeerJ 5, e3720, 2017
1942017
Production of individualized V gene databases reveals high levels of immunoglobulin genetic diversity
MM Corcoran, GE Phad, NV Bernat, C Stahl-Hennig, N Sumida, ...
Nature communications 7, 13642, 2016
1892016
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
A Ameur, J Dahlberg, P Olason, F Vezzi, R Karlsson, M Martin, J Viklund, ...
European Journal of Human Genetics 25 (11), 1253-1260, 2017
1832017
The genetic basis for ecological adaptation of the Atlantic herring revealed by genome sequencing
AM Barrio, S Lamichhaney, G Fan, N Rafati, M Pettersson, H Zhang, ...
elife 5, e12081, 2016
1802016
Cloche is a bHLH-PAS transcription factor that drives haemato-vascular specification
S Reischauer, OA Stone, A Villasenor, N Chi, SW Jin, M Martin, MT Lee, ...
Nature 535 (7611), 294-298, 2016
1482016
Sarek: A portable workflow for whole-genome sequencing analysis of germline and somatic variants
M Garcia, S Juhos, M Larsson, PI Olason, M Martin, J Eisfeldt, ...
F1000Research 9, 2020
1242020
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying …
A Lindstrand, J Eisfeldt, M Pettersson, C Carvalho, M Kvarnung, ...
Genome medicine 11 (1), 1-23, 2019
1072019
High-Quality Library Preparation for NGS-Based Immunoglobulin Germline Gene Inference and Repertoire Expression Analysis
N Vázquez Bernat, MM Corcoran, U Hardt, M Kaduk, GE Phad, M Martin, ...
Frontiers in Immunology 10, 660, 2019
1032019
Exact and heuristic algorithms for weighted cluster editing
S Rahmann, T Wittkop, J Baumbach, M Martin, A Truss, S Böcker
Computational Systems Bioinformatics: (Volume 6), 391-401, 2007
982007
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
JC Czeschik, C Voigt, Y Alanay, B Albrecht, S Avci, D Fitzpatrick, ...
Human genetics 132 (8), 885-898, 2013
852013
Discovering motifs that induce sequencing errors
M Allhoff, A Schönhuth, M Martin, IG Costa, S Rahmann, T Marschall
BMC bioinformatics 14 (5), S1, 2013
812013
De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data
A Ameur, H Che, M Martin, I Bunikis, J Dahlberg, I Höijer, S Häggqvist, ...
Genes 9 (10), 486, 2018
592018
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies-expanding the phenotypes associated with EFTUD2 mutations
C Voigt, A Mégarbané, K Neveling, JC Czeschik, B Albrecht, B Callewaert, ...
Orphanet journal of rare diseases 8 (1), 110, 2013
562013
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