The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity
المؤلفون المشاركون
المصدر
Computational and Mathematical Methods in Medicine
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-13، 13ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-05-14
دولة النشر
مصر
عدد الصفحات
13
التخصصات الرئيسية
الملخص EN
There has been recent success in identifying disease-causing variants in Mendelian disorders by exome sequencing followed by simple filtering techniques.
Studies generally assume complete or high penetrance.
However, there are likely many failed and unpublished studies due in part to incomplete penetrance or phenocopy.
In this study, the expected number of candidate single-nucleotide variants (SNVs) in exome data for autosomal dominant or recessive Mendelian disorders was investigated under the assumption of “no genetic heterogeneity.” All variants were assumed to be under the “null model,” and sample allele frequencies were modeled using a standard population genetics theory.
To investigate the properties of pedigree data, full-sibs were considered in addition to unrelated individuals.
In both cases, particularly regarding full-sibs, the number of SNVs remained very high without controls.
The high efficacy of controls was also confirmed.
When controls were used with a relatively large total sample size (e.g., N=20, 50), filtering incorporating of incomplete penetrance and phenocopy efficiently reduced the number of candidate SNVs.
This suggests that filtering is useful when an assumption of no “genetic heterogeneity” is appropriate and could provide general guidelines for sample size determination.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Nishino, Jo& Mano, Shuhei. 2013. The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity. Computational and Mathematical Methods in Medicine،Vol. 2013, no. 2013, pp.1-13.
https://search.emarefa.net/detail/BIM-452264
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Nishino, Jo& Mano, Shuhei. The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity. Computational and Mathematical Methods in Medicine No. 2013 (2013), pp.1-13.
https://search.emarefa.net/detail/BIM-452264
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Nishino, Jo& Mano, Shuhei. The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity. Computational and Mathematical Methods in Medicine. 2013. Vol. 2013, no. 2013, pp.1-13.
https://search.emarefa.net/detail/BIM-452264
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-452264
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر