A Genotypic-oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macro-categories of Cystic Fibrosis. [PDF]
, 2015 Cystic Fibrosis (CF) is a monogenic disease caused by mutations of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. The genotype-phenotype relationship in this disease is still unclear, and diagnostic, prognostic and therapeutic ...
Amato, Annalisa +10 more
core +1 more source
Hearing impairment in Stickler syndrome: a systematic review [PDF]
, 2012 BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance ...
Acke, Frederic +3 more
core +2 more sources
Prediction of inherited genomic susceptibility to 20 common cancer types by a supervised machine-learning method. [PDF]
, 2018 Prevention and early intervention are the most effective ways of avoiding or minimizing psychological, physical, and financial suffering from cancer. However, such proactive action requires the ability to predict the individual's susceptibility to cancer
Kim, Byung-Ju, Kim, Sung-Hou
core +2 more sources
The causal meaning of Fisher's average effect [PDF]
, 2013 In order to formulate the Fundamental Theorem of Natural Selection, Fisher defined the average excess and average effect of a gene substitution. Finding these notions to be somewhat opaque, some authors have recommended reformulating Fisher's ideas in ...
Chow, Carson C., Lee, James J.
core +1 more source
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]
, 2017 ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael +21 more
core
Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis [PDF]
, 2013 Anti-tumor necrosis factor alpha (anti-TNF) biologic therapy is a widely used treatment for rheumatoid arthritis (RA). It is unknown why some RA patients fail to respond adequately to anti-TNF therapy, which limits the development of clinical biomarkers ...
A Parker +97 more
core +8 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski +9 more
wiley +1 more source
Genotype-phenotype correlation in multiple endocrine neoplasia type 2
Clinics, 2012 Multiple endocrine neoplasia type 2 is an autosomal-dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the rearranged during transfection proto-oncogene, which encodes the receptor tyrosine kinase, on chromosome 10.
Friedhelm Raue, Karin Frank-Raue
doaj +1 more source
netgwas: An R Package for Network-Based Genome-Wide Association Studies
, 2019 Graphical models are powerful tools for modeling and making statistical inferences regarding complex associations among variables in multivariate data.
Arends, Danny +2 more
core +1 more source
Multiple testing correction in linear mixed models. [PDF]
, 2016 BackgroundMultiple hypothesis testing is a major issue in genome-wide association studies (GWAS), which often analyze millions of markers. The permutation test is considered to be the gold standard in multiple testing correction as it accurately takes ...
Eskin, Eleazar +3 more
core +2 more sources