HEAD OF THE UNIT:
Jochen Hecht
LABORATORY MANAGER:
Anna Ferrer
LABORATORY TECHNICIANS:
Anna Menoyo, Irene González, Magda Montfort, Maik Zehnsdorf, Maria Aguilar, Núria Andreu,
BIOINFORMATICIAN:
Kathrin Meindl
Genomics Unit
CORE FACILITIES
Summary
The Genomics Unit aims at providing excellent, state-of-the-art services for microarray technology and next-generation sequencing. In addition to providing service, the Unit is dedicated to test, implement, and to develop new protocols for various sequencing applications to advance the analysis of genes and genomes. The Unit is equipped with two Illumina HiSeq 2500, and we have access to the HiSeq 3000 at CNAG, which is part of the CRG. Additionally, the unit operates an Illumina MiSeq sequencer. Protocols for a broad range of applications like genomic sequencing, exome enrichment, amplicon sequencing, ChIP-Seq, and transcriptome characterization at the level of total RNA, small RNA, or mRNA are available for routine use. Besides the routine protocols, a focus of the Unit is the customization of library preparation protocols. The Unit has developed protocols for mRNA sequencing from blood samples that involve depletion of globin mRNAs without using expensive total RNA library prep. Another example is the implementation of a highly cost-efficient protocol for library preparation and enrichment for targeted resequencing that is suitable for processing large number of samples.
Research Projects
- Validation of single cell RNA-seq protocols (Drop-seq; InDrop-seq).
- In-house production and improvement of various enzymes for library preparation applications (together with the Biomolecular Screening and Protein Technologies Unit)
Publications
Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.
“De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.”
Am J Hum Genet, 101(5):833-843 (2017).
Silva P, Neumann M, Schroeder MP, Vosberg S, Schlee C, Isaakidis K, Ortiz-Tanchez J, Fransecky LR, Hartung T, Türkmen S, Graf A, Krebs S, Blum H, Müller-Tidow C, Thiede C, Ehninger G, Serve H, Hecht J, Berdel WE, Greif PA, Röllig C, Baldus CD.
“Acute myeloid leukaemia in the elderly is characterized by a distinct genetic and epigenetic landscape.”
Leukemia, 31(7):1640-1644 (2017).
Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S. A
“De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.”
Sci Rep, 7:44138 (2017).
Jerković I, Ibrahim DM, Andrey G, Haas S, Hansen P, Janetzki C, González Navarrete I, Robinson PN, Hecht J, Mundlos S.
“Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.”
PLoS Genet, 13(1):e1006567 (2017).