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Featured article: Rare CNV screening in ulcerative colitis

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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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Featured case report: Novel mutation linked to MODY

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This case reports a novel heterozygous missense mutation in the HNF-1α gene in a family with members affected by maturity onset diabetes of the young (MODY). The family also showed increased susceptibility to type 2 diabetes. The authors conclude that the presence of type 2 diabetes should not detract from the possibility of MODY in patients with family history.

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2. CASE REPORT

   Whole genome sequencing identifies a novel ALMS1gene mutation in two Chinese siblings with Alström syndrome

   Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian and Wenhao Zhou

   Published on: 19 July 2017
3. RESEARCH ARTICLE

   Sex is a moderator of the association between NOS1APsequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

   Annika Winbo, Eva-Lena Stattin, Ida Maria Westin, Anna Norberg, Johan Persson, Steen M. Jensen and Annika Rydberg

   Published on: 18 July 2017
4. CASE REPORT

   Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

   Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo and Mohammad Ali Faghihi

   Published on: 17 July 2017
5. RESEARCH ARTICLE

   Signal transducer and activator of transcription 3 (STAT3) promoter methylation and expression in pituitary adenoma

   Indre Valiulyte, Giedrius Steponaitis, Daina Skiriute, Arimantas Tamasauskas and Paulina Vaitkiene

   Published on: 14 July 2017
6. SOFTWARE

   f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies

   Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya and Atsushi Shimizu

   Published on: 14 July 2017

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