Academic Journal

Rapid fine mapping of causative mutations from sets of unordered, contig-sized fragments of genome sequence

التفاصيل البيبلوغرافية
العنوان: Rapid fine mapping of causative mutations from sets of unordered, contig-sized fragments of genome sequence
المؤلفون: Ghanasyam Rallapalli, Pilar Corredor-Moreno, Edward Chalstrey, Martin Page, Daniel MacLean
المصدر: BMC Bioinformatics, Vol 20, Iss 1, Pp 1-7 (2019)
بيانات النشر: BMC
سنة النشر: 2019
المجموعة: Directory of Open Access Journals: DOAJ Articles
مصطلحات موضوعية: Mapping by sequencing, Next generation mapping, Bulk segregant analysis, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
الوصف: Background Traditional Map based Cloning approaches, used for the identification of desirable alleles, are extremely labour intensive and years can elapse between the mutagenesis and the detection of the polymorphism. High throughput sequencing based Mapping-by-sequencing approach requires an ordered genome assembly and cannot be used with fragmented, un-scaffolded draft genomes, limiting its application to model species and precluding many important organisms. Results We addressed this gap in resource and presented a computational method and software implementations called CHERIPIC (Computing Homozygosity Enriched Regions In genomes to Prioritise Identification of Candidate variants). We have successfully validated implementation of CHERIPIC using three different types of bulk segregant sequence data from Arabidopsis, maize and barley, respectively. Conclusions CHERIPIC allows users to rapidly analyse bulk segregant sequence data and we have made it available as a pre-packaged binary with all dependencies for Linux and MacOS and as Galaxy tool.
نوع الوثيقة: article in journal/newspaper
اللغة: English
تدمد: 1471-2105
Relation: http://link.springer.com/article/10.1186/s12859-018-2515-5; https://doaj.org/toc/1471-2105; https://doaj.org/article/a18f7923c11d4b45805d5fe4097583c8
DOI: 10.1186/s12859-018-2515-5
الاتاحة: https://doi.org/10.1186/s12859-018-2515-5
https://doaj.org/article/a18f7923c11d4b45805d5fe4097583c8
رقم الانضمام: edsbas.F7DDF60E
قاعدة البيانات: BASE
الوصف
تدمد:14712105
DOI:10.1186/s12859-018-2515-5