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Featured article: Rare CNV screening in ulcerative colitis

Genome-wide rare copy number variants contributing to risk of ulcerative colitis are identified from this multi-step case control analysis. Three rare copy number variants were reproduced in independent follow-up sample sets from twenty four in the initial panel.

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1. CONTENT TYPE:RESEARCH ARTICLE

     |  25 November 2017

   A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian admixture population

   Authors:Isabelle C. C. dos Santos, Julieta Genre, Diego Marques, Ananília M. G. da Silva, Jéssica C. dos Santos, Jéssica N. G. de Araújo, Victor H. R. Duarte, Angel Carracedo, Maria Torres-Español, Gisele Bastos, Carlos C. de Oliveira Ramos, André D. Luchessi and Vivian N. Silbiger
2. CONTENT TYPE:RESEARCH ARTICLE

     |  23 November 2017

   Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review

   Authors:Abdoul Karim Ouattara, Pouiré Yameogo, Lassina Traore, Birama Diarra, Maléki Assih, Tegwindé Rébéca Compaore, Dorcas Obiri-yeboah, Serge Théophile Soubeiga, Florencia Wendkuuni Djigma and Jacques Simpore
3. CONTENT TYPE:CASE REPORT

     |  21 November 2017

   Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

   Authors:Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz and Miriam Guitart
4. CONTENT TYPE:CASE REPORT

     |  21 November 2017

   Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

   Authors:Dongling Liu, Xijiang Hu, Xiwen Jiang, Bo Gao, Cheng Wan and Changying Chen
5. CONTENT TYPE:RESEARCH ARTICLE

     |  21 November 2017

   Association of common genetic variants related to atrial fibrillation and the risk of ventricular fibrillation in the setting of first ST-elevation myocardial infarction

   Authors:Reza Jabbari, Javad Jabbari, Charlotte Glinge, Bjarke Risgaard, Stefan Sattler, Bo Gregers Winkel, Christian Juhl Terkelsen, Hans-Henrik Tilsted, Lisette Okkels Jensen, Mikkel Hougaard, Stig Haunsø, Thomas Engstrøm, Christine M. Albert and Jacob Tfelt-Hansen

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