BBMRI-LPC Whole Exome Sequencing (WES) call: 17 projects have been awarded!

In total 17 projects, including a total of 900 samples, have been awarded in the 2016 Whole Exome Sequencing (WES) call launched in June 2016. These 17 projects will get free-of-charge Whole-Exome Sequencing  and bioinformatics analyses. The PIs will soon receive further instructions.

The awarded projects are as follows:

Exome sequencing of a cohort of Rett syndrome-like patients Armstrong Morón JS, Tejada M, Renieri A
Genetic Heterogeneity of the familial gastric neuroendocrine tumors Benitez J,  Valdés Socin H, Calvete O
Molecular diagnosis of albinism Montoliu José L, Carracedo Álvarez Á, Arveiler B
Deciphering the molecular causes of Ophthalmogenetic Diseases: Exome Sequencing analysis for gene discovery  Ayuso C, Rivolta C
Exome trios in 50 patients with gastroschisis Lapunzina P, Scarano G
Identification of novel genes in patients with Congenital Myasthenic Syndrome (CMS)  Lochmüller H, Senderek J
Identification of Molecular Pathology of Undiagnosed Patients with Mitochondrial Disorders by Whole Exome Sequencing Dursun A, Soler D
Undiagnosed cases with complex phenotypes including intellectual disability  Posada De La Paz M, Forzano F, Mari F
Identification of Genetic Causes of Undiagnosed Epileptic Encephalopathies Yalnizoglu D, Antonietta Mencarelli M, Koksal Ozgul R
Unravelling the genetic cause of a neuropathic pain phenotype segregating in an extended multigenerational family through WES Cormand Rifà B, Serra J
Identification of genes involved in congenital disorders of glycosylation and 3-methylglutaconic aciduria Tort F,  Morava Kozicz E, Vilarinho L
Undiagnosed cases of congenital and dystrophic neuromuscular diseases Mora M, Muntoni F, Scerri C
Gene Characterization in Carbohydrate metabolic alterations (neonatal diabetes &congenital hyperinsulinemic)in early childhood Castaño L, Barbetti F, Polak M
Identification and haracterization of the underlying genetic and molecular defect in undiagnosed inherited ataxias by WES Matilla-Dueñas A, Houlden HJ
Whole exome sequencing for clarification of rare causes of axonal Charcot-Marie-Tooth disease Espinós C, Seeman P
Identification of additional genes involved in Pyruvate Kinase Deficiency phenotypic variability Segovia JC, Bianchi P, van Wijk R
Identification of New Genes involved in Infant and Adult Sudden Cardiac Death Gimeno Blanes JR, Corral De La Calle J, Elliott PM

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2016 BBMRI-LPC Whole Exome Sequencing Call