Gensearch has been designed with the molecular diagnostics laboratory in mind: accurate analysis of DNA sequences generated by capillary sequencers for mutation detection.
It integrates in a user friendly software package a highly specific and selective proprietary algorithm for heterozygous detection, tools to understand small insertions and deletions, a simple mutation/variant database as well as connections to various public and private bioinformatics tools (BLAT, Splice Predictor, Alamut,...).The process has been streamlined for an effective use of precious work time in a diagnostic settings: repetitively detecting and interpreting variants on known genes, and reporting them (even publish them on Cafe Variome).
Screen shots:
Some publications:
Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk.
Authors: Séguro F, Rabès JP, Taraszkiewicz D, Ruidavets JB, Bongard V, Ferrières J
Publication: Clin Cardiol. 2018 Mar;41(3):385-391. doi: 10.1002/clc.22881. Epub 2018 Mar 25.
New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.
Authors: Sandy Elbitar, Delia Susan-Resiga, Youmna Ghaleb, Petra El Khoury, Gina Peloso, Nathan Stitziel, Jean-Pierre Rabès, Valérie Carreau, Josée Hamelin, Ali Ben-Djoudi-Ouadda, Eric Bruckert, Catherine Boileau, Nabil G. Seidah, Mathilde Varret, and Marianne Abifadel (corresponding author)
Publication: Sci Rep. 2018; 8: 1943. Published online 2018 Jan 31. doi: 10.1038/s41598-018-20281-9.
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.
Authors: Vona, B., Hofrichter, M. A. H., Neuner, C., Schröder, J., Gehrig, A., Hennermann, J. B., ... & Haaf, T.
Publication: Clinical genetics, 2015, vol. 87, no 1, p. 49-55.
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
Authors: Anna-Lena Semmler et al.
Publication: Orphanet Journal of Rare Diseases 2014, 9:121 doi:10.1186/s13023-014-0121-9
Targeted Next-Generation Sequencing of Deafness Genes in Hearing-Impaired Individuals Uncovers Informative Mutations
Authors: Vona, B., Müller, T., Nanda, I., Neuner, C., Hofrichter, M. A., Schröder, J., ... & Haaf, T.
Publication: Genetics in Medicine (2014) 16, 945–953 doi:10.1038/gim.2014.65
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype
Authors:Lucie Coppin, Claudine Grutzmacher, Michel Crépin, Evelyne Destailleur, Sophie Giraud, Catherine Cardot-Bauters, Nicole Porchet and Pascal Pigny
European Journal of Human Genetics 22, 1149-1152 (September 2014) | doi:10.1038/ejhg.2013.279
Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene – a case report
Authors: S. Rost, V. Aumann, I. Nanda, J. Oldenburg and C. R. Müller
Publication: Haemophilia. 2013 Sep;19(5):e310-3. doi: 10.1111/hae.12190. Epub 2013 May 28
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6
Authors: Simone Rost, Elisa Bach, Cordula Neuner, Indrajit Nanda, Sandra Dysek, Reginald E Bittner,
Alexander Keller, Oliver Bartsch, Robert Mlynski, Thomas Haaf, Clemens R Muller and Erdmute Kunstmann.
European Journal of Human Genetics advance online publication 29 May 2013; doi: 10.1038/ejhg.2013.108
Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.
Authors: Morice-Picard F, Kostrzewa E, Wolf C, Benlian P, Taïeb A, Lacombe D.
Arch Dermatol. 2011 Sep;147(9):1073-6. doi: 10.1001/archdermatol.2011.230.
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).
Authors: Amandine Georges, Jessica Bonneau, Dominique Bonnefont-Rousselot, Jacqueline Champigneulle, Jean P Rabès, Marianne Abifadel, Thomas Aparicio, Jean C Guenedet, Eric Bruckert, Catherine Boileau, Alain Morali, Mathilde Varret, Lawrence P Aggerbeck and Marie E Samson-Bouma.
Orphanet Journal of Rare Diseases 2011, 6:1 doi:10.1186/1750-1172-6-1
Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
Authors: Marie Marduel, Alain Carrié, Agnes Sassolas, Martine Devillers, Valérie Carreau, Mathilde Di Filippo, Danièle Erlich, Marianne Abifadel, Alice Marques-Pinheiro, Arnold Munnich, Claudine Junien, Catherine Boileau, Mathilde Varret, Jean-Pierre Rabès
Human Mutation Volume 31, Issue 11, pages E1811–E1824, November 2010
Mutations of the orexin system, a regulator of sleep arousal, are not a common cause of ADNFLE
Authors: I Bouchardy, O Steinlein, R Combi, L Ferini-Strambi, A. Gambardella, G. Rudolf, M.A. Morris, F. Picard
Neurology April 5, 2011 vol. 76 no. 14 1272-1273
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
Authors: P Makrythanasis, I Moix, S Gimelli, J Fluss, K Aliferis, SE Antonarakis, MA Morris, F Béna, A Bottani
Clinical Genetics Volume 78, Issue 2, pages 175–180, August 2010
Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome is linked to dysregulated monocyte IL-1β production
Authors: Laeticia Kolly, Nathalie Busso, Annette von Scheven-Gete, Nathaliane Bagnoud, Isabelle Moix, Dirk Holzinger, Gregoire Simon, Annette Ives, Greta Guarda, Alexander So, Michael A. Morris, Michaël Hofer,
Journal of Allergy and Clinical Immunology, 2012
PCSK9 Dominant Negative Mutant Results in Increased LDL Catabolic Rate and Familial Hypobetalipoproteinemia
Authors: Bertrand Cariou, Khadija Ouguerram, Yassine Zaïr, Raphael Guerois, Cédric Langhi, Sanae Kourimate, Isabelle Benoit, Cédric Le May, Constance Gayet, Khaldia Belabbas, Fabienne Dufernez, Maud Chétiveaux, Patrizia Tarugi, Michel Krempf, Pascale Benlian, Philippe Costet
Arteriosclerosis, Thrombosis, and Vascular Biology. 2009; 29: 2191-2197
Diagnosis scoring for clinical identification of children with heterozygous familial hypercholesterolemia.
Authors: Benlian, P., Turquet, A., Carrat, F., Amsellem, S., Sanchez, L., Briffaut, D., & Girardet, J. P.
Publication: Journal of pediatric gastroenterology and nutrition, 2009, vol. 48, no 4, p. 456-463.
APOA5 Missense Mutations Associated with Chylomicronemia Sensitive to Fibrate Therapy
Authors: Alvaro Martinez, Gilles Morineau, Fabienne Dufernez, Antoine Crie, Jamila Fruchart-Najib, Pascale Benlian
Circulation. 2008;118:S_405.