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Genetics of disease

Identifying disease genes using machine learning and gene functional similarities, assessed through Gene Ontology

Muhammad Asif, Hugo F. M. C. M. Martiniano, Astrid M. Vicente, Francisco M. Couto

The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease

Esther Kuperus, Jan C. van der Meijden, [ ... ], W. W. M. Pim Pijnappel

Identification of barley powdery mildew resistances in gene bank accessions and the use of gene diversity for verifying seed purity and authenticity

Antonín Dreiseitl, Marta Zavřelová

The impact of a fine-scale population stratification on rare variant association test results

Elodie Persyn, Richard Redon, Lise Bellanger, Christian Dina

Longer TOMM40 poly-T variants associated with higher FDDNP-PET medial temporal tau and amyloid binding

Prabha Siddarth, Alison C. Burggren, [ ... ], Gary W. Small

Associations between three XRCC1 polymorphisms and hepatocellular carcinoma risk: A meta-analysis of case-control studies

Yao Xiong, Qian Zhang, [ ... ], Lianying Ge

Immune diversity sheds light on missing variation in worldwide genetic diversity panels

Laurent Abi-Rached, Philippe Gouret, [ ... ], Julien Paganini

An EST-SSR based genetic linkage map and identification of QTLs for anthracnose disease resistance in water yam (Dioscorea alata L.)

Ranjana Bhattacharjee, Christian O. Nwadili, [ ... ], Ranajit Bandyopadhyay

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

Marina Andjelkovic, Predrag Minic, [ ... ], Sonja Pavlovic

rs4246215 is targeted by hsa-miR1236 to regulate FEN1 expression but is not associated with Fuchs’ endothelial corneal dystrophy

Gargi Gouranga Nanda, Malloji Vinay Kumar, [ ... ], Debasmita Pankaj Alone

AIF-1 gene does not confer susceptibility to Behçet’s disease: Analysis of extended haplotypes in Sardinian population

Maria Maddalena Angioni, Matteo Piga, [ ... ], Alessandro Mathieu

Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis

Flora Alarcon, Violaine Planté-Bordeneuve, Malin Olsson, Grégory Nuel

Independent association of HLA-DPB102*:01 with rheumatoid arthritis in Japanese populations

Hiroshi Furukawa, Shomi Oka, [ ... ], Shigeto Tohma

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