LoFtool: a gene intolerance score based on loss-of-function variants in 60 706 individuals
نویسندگان
چکیده
منابع مشابه
interpersonal function of language in subtitling
translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولEstimation Based on an Appropriate Choice of Loss Function
Some examples of absurd uniformly minimum variance unbiased estimators are discussed. Two reasons, argued in the literature, for having such estimators are lack of enough information in the available data and property of unbiasedness. In this paper, accepting both of these views, we show that an appropriate choice of loss function using a general concept of unbiasedness leads to risk unb...
متن کاملSyntool: A Novel Region-Based Intolerance Score to Single Nucleotide Substitution for Synonymous Mutations Predictions Based on 123,136 Individuals
BACKGROUND Synonymous mutation is the single nucleotide change that does not cause an amino acid change but can affect the rate and efficiency of translation. So recent increase in our knowledge has revealed a substantial contribution of synonymous mutations to human disease risk and other complex traits. Nevertheless, there are still rarely synonymous mutation prediction methods. METHODS Non...
متن کاملMutation Identification in Exon 10 of SLC26A4 Gene in Individuals with Hearing Loss in Guilan Province
Introduction: Mutation in SLC26A4 gene is one of reason of syndromic and non-syndomic hearing loss. Mutation in this gene is reported to be the second most common cause of deafness in the worldwide, after GJB2 gene. The aim of this study was to evaluate mutations in exon 10 of SLC26A4 gene in individuals with hearing loss in Guilan province. Materials and Methods: In this descriptive cross-sect...
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جنبه های گوناگونی از زندگی در ایران را از جمله سبک زندگی، علم و امکانات فنی و تکنولوژیکی می توان کم یا بیش وارداتی در نظر گرفت. زبان انگلیسی و روش تدریس آن نیز از این قاعده مثتسنی نیست. با این حال گاهی سوال پیش می آید که آیا یک روش خاص با زیر ساخت های نظری، فرهنگی اجتماعی و آموزشی جامعه ایرانی سازگاری دارد یا خیر. این تحقیق بر اساس روش های ترکیبی انجام شده است.پرسش نامه ای نیز برای زبان آموزان ...
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ژورنال
عنوان ژورنال: Bioinformatics
سال: 2016
ISSN: 1367-4803,1460-2059
DOI: 10.1093/bioinformatics/btv602