Publications

Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples.

Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delépine M, Palomares MA, Jubin C, Blanché H, Meyer V, Boland A, Olaso R, Deleuze JF.

PLoS One. 2018 Apr 5;13(4):e0195471. doi: 10.1371/journal.pone.0195471. eCollection 2018

Human thymopoiesis is influenced by a common  genetic variant within the TCRA-TCRD locus.

Clave E, Araujo IL, Alanio C, Patin E, Bergstedt J, Urrutia A, Lopez-Lastra S, Li Y, Charbit B, MacPherson CR, Hasan M, Melo-Lima BL, Douay C, Saut N, Germain M, Trégouët DA, Morange PE, Fontes M, Duffy D, Di Santo JP, Quintana-Murci L, Albert ML, Toubert A for The Milieu Intérieur Consortium t

Science Translational Medecine (issued September 5th)

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation.

Joshua C. Bis1 et al, Alzheimer’s Disease Sequencing Project

Mol Psychiatry. 2018 Aug 14. doi: 10.1038/s41380-018-0112-7.

Whole-Blood miRNA Sequencing Profiling for Vasospasm in Patients With Aneurysmal Subarachnoid Hemorrhage (pdf articie)

Anne-Sophie Pulcrano-Nicolas, MSc; Carole Proust; Frédéric Clarençon, MD, PhD; Alice Jacquens; Claire Perret, MSc; Maguelonne Roux; Eimad Shotar, MD; Florian Thibord, MSc; Louis Puybasset, MD, PhD; Sophie Garnier, PhD; Vincent Degos, MD, PhD; David-Alexandre Trégouët, PhD

Stroke. 2018;49:00-00. DOI: 10.1161/STROKEAHA.118.021101.

Improved Microsatellite Instability Detection and Identification by Nuclease-Assisted Microsatellite Instability Enrichment Using HSP110 T17.

Baudrin LG, Duval A, Daunay A, Buhard O, Bui H, Deleuze JF, How-Kit A

Clin Chem. 2018 Jun 14. pii: clinchem.2018.287490. doi: 10.1373/clinchem.2018.287490.

MACARON: A python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data

Khan W, Saripella GV, Ludwig T, Cuppens T, Thibord F; FREX consortium, Génin E, Deleuze JF, Trégouët DA; GENMED Consortium

Bioinformatics. 2018 May 3. doi: 10.1093/bioinformatics/bty382. [Epub ahead of print]

Download the source code in a ZIP archive