Using RNA-Guided Endonuclease (RGEN) technology or CRISPR/Cas9 genome engineering technology, CNIO and CNIC researchers have shown that it is possible to obtain such chromosomal translocations.
Hi Alok,
NGS Family Analysis Tutorial by Golden Helix is much useful and user friendly. http://doc.goldenhelix.com/SVS/tutorials/ngs_family_analysis/ngs_family_analysis.pdf
GATB: Genome Assembly & Analysis Tool Box is yet another useful...
Hi Neelam,
My GATK workflow for a pair end Illumina data. SNPs calling using following steps:Downloaded the SNP and indels databases from ftp://gsapubftp-anonymous@ftp.broadinstitute.org (bunlde -> 1.5 -> hg19) The exome intervals using UCSC...
Hi Neelam,
The extraction of single nucleotide polymorphisms (SNPs) from the raw genetic sequences involves many processing steps and the application of a diverse set of tools. The pipeline includes quality control, mapping of short reads...
Hi Poonam,
The various aspect of SNP calling is covered in this recent http://www.ncbi.nlm.nih.gov/pubmed/21478889 entitled "A framework for variation discovery and genotyping using next-generation DNA sequencing data" from authors of GATK. In...
Hi Neelam,
There are several workflow, but you might find this SNP pipeline useful. It uses GATK for SNP calling which currently starts with an alignment from BWA.
In nutshell, the flow involves realigning the BAM file using GATK's -> SNP...
The Integrative Genomics Viewer (IGV) from the Broad Center allows you to view several types of data files involved in any NGS analysis that employs a reference genome, including how reads from a dataset are mapped, gene annotations, and predicted...