Whole ex ome capture the magic

References 1. A total of 17 genes linked to BBS have identified so far Figure 1 , which contain a total of 242 coding fragments. View Article Google Scholar 4. View Article Google Scholar 18.

Exome Sequencing

Taken together, these clinical symptoms and signs suggested the diagnosis of BBS. Sequencing only the coding regions of the genome enables researchers to focus their resources on the genes most likely to affect phenotype, and offers an accessible combination of turnaround time and price. Table S3. Efficient Analysis of Coding Regions. AmpliSeq for Illumina Exome Panel Targeted research panel for sequencing the protein-coding regions of the genome.

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View Article Google Scholar 21. View Article Google Scholar 15. Following detailed personal interviews with patients and their unaffected family members, we found that the probands showed other signs of speech delay and poor coordination.

Squares indicate males; circles indicate females; solid symbols indicate affected; open symbols indicate unaffected; Bar on the symbol indicates the proband examined by TES; WT, wildtype; M indicates mutation. Wrote the paper: NextSeq 550 System Flexible power to sequence up to 9 human exomes per run. Hum Genet. Supporting Information. In pedigree of WZ036, mutation c. Library Prep Kit Selector Library Prep Kit Selector Determine the best kit for your needs based on project type, starting material, and method or application.

Cost-effective library preparation and exome enrichment solution that delivers exceptional target coverage over a broad range of read depths.

Whole Exome Sequencing - A Primer for Patients & Parents

Thomas St. Meanwhile, the unaffected father in this family had a heterozygous BBS2 mutation of c. Illumina, Inc. View Article Google Scholar. Analyzed the data: