SeqSIMLA2_exact: simulate multiple disease sites in large pedigrees with given disease status for diseases with low prevalence
نویسندگان
چکیده
UNLABELLED It is difficult for current simulation tools to simulate sequence data in a pre-specified pedigree structure and pre-specified affection status. Previously, we developed a flexible tool, SeqSIMLA2, for simulating sequence data in either unrelated case-control or family samples with different disease and quantitative trait models. Here we extended the tool to efficiently simulate sequences with multiple disease sites in large pedigrees with a given disease status for each pedigree member, assuming that the disease prevalence is low. AVAILABILITY AND IMPLEMENTATION SeqSIMLA2_exact is implemented with C++ and is available at http://seqsimla.sourceforge.net.
منابع مشابه
Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth
Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...
متن کاملEvaluation of low doses of Azathioprine in reducing relapse and corticosteroid dependence in patients with Ulcerative Colitis
Background and Aim: Ulcerative Colitis is an idiopathic inflammatory bowel disease that is common in adults. Although corticosteroids are the most effective preservative treatment for Ulcerative Colitis. However, due to the dependence of these drugs and their serious complications, the use of an immunosuppressive drug or surgery should be taken seriously. Thus the aim of the study was the evalu...
متن کاملThe Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects
Background The prevalence of celiac disease (CD) is remarkably varied in Down syndrome(DS)patientscompared with other diseases. This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD) and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three...
متن کاملPrevalence and predictors of dysphagia in Iranian patients with multiple sclerosis
Background: Dysphagia is frequently observed in patients with multiple sclerosis (MS). Dysphagia and its complications are common causes of morbidity and mortality in final stages of MS disease. This study aimed at determining the prevalence of dysphagia in Iranian patients with MS and identifying predictors associated with dysphagia. Methods: A total of 230 MS ...
متن کاملA survey on information of physicians in health center in Shiraz about infectious diseases (Tuberculosis, brucella, typhoid fever, dysentery) (1999).
Background. Education of physician and preparing them for suitable diagnosis and treatment of diseases are the main target of medical education with regard to importance of adjustment of educational content with community needs and high prevalence of infectious disease. We decided to measure information of general practitioners of health centers in Shiraz about diagnosis, treatment and preventi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Bioinformatics
دوره 32 4 شماره
صفحات -
تاریخ انتشار 2016