Research Techniques Made Simple: Genome-Wide Homozygosity/Autozygosity Mapping Is a Powerful Tool for Identifying Candidate Genes in Autosomal Recessive Genetic Diseases

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.

PURPOSE To identify the disease gene in five Spanish families with autosomal recessive retinitis pigmentosa (arRP) linked to the RP25 locus. Two candidate genes, EEF1A1 and IMPG1, were selected from the region between D6S280 and D6S1644 markers where the families are linked. The genes were selected as good candidates on the basis of their function, tissue expression pattern, and/or genetic data...

متن کامل

Unveiling the genetic loci for a panicle developmental trait using genome-wide association study in rice

Panicle size has a high correlation with grain yield in rice. There is a bottleneck to identify the additional quantitative trait loci (QTL) for panicle size due to the conventional traits used for QTL mapping. To identify more genetic loci for panicle size, a panicle developmental trait (LNTB, the length from panicle neck-knot to the first primary branch in the rachis) related to panicle size ...

متن کامل

VaRank: a simple and powerful tool for ranking genetic variants

Background. Most genetic disorders are caused by single nucleotide variations (SNVs) or small insertion/deletions (indels). High throughput sequencing has broadened the catalogue of human variation, including common polymorphisms, rare variations or disease causing mutations. However, identifying one variation among hundreds or thousands of others is still a complex task for biologists, genetic...

متن کامل

In Silico Genome-Wide Screening for TnrA-Regulated Genes of Bacillus clausii

Bacillus clausii TnrA transcription factor is required for global nitrogen regulation. In order to obtain anoverview of gene regulation by TnrA in B. clausii KSMK16, the entire genome of B. clausii was screened forthe consensus sequence, 5’-TGTNAN7TNACA-3’ known as the TnrA box, and 13 transcription units werefound containing a putative TnrA box. The TnrA targets identified in...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 2018

ISSN: 0022-202X

DOI: 10.1016/j.jid.2018.06.170