BOL: Results for "Deletion"

Results for "Deletion"

- Jit@jit.aber
Computer simulation of genetic mechanism !!
...Pedigree Structures http://bioinformatics.org/simped/ Simprot A program to simulate protein evolution by substitution, insertion and deletion http://www.uhnresearch.ca/lab...
2989 days ago
- Jit@jit.aber
Structural variation: the hidden genomic treasure
...s. Structural variants (SVs) such as deletions, insertions, duplications, i...and unbalanced ones such as duplications and deletions (copy number variations or C...variations (Large insertions, translocation, deletion, inversions....) Tools...
2717 days ago
+2 more Blogs

- Jit@jit.aber
WgSim
...ator Wgsim is a small tool for simulating sequence reads from a reference genome. It is able to simulate diploid genomes with SNPs and insertion/deletion (INDEL) polymorphisms, and si...
2887 days ago
- Jit@jit.aber
COSMIC
...ints. The Syntax (shown above the table) gives a detailed description of the variant and its location (e.g. chr11:g.36585230_76606619del, a deletion of roughly 40Mb on chrom...
2787 days ago
+7 more Bookmarks

- Jit@jit.aber
List of generic simulation software/tools/resource with brief description and homepage !!!
...for Pedigree Structures http://www.hgsc.bcm.tmc.edu/content/simpedSimprot A program to simulate protein evolution by substitution, insertion and deletion http://www.uhnresearch.ca/lab...
3751 days ago
- Jitendra Prajapati@jprajapati81
List of Bioinformatics Software Tools for Next Generation Sequencing
...) in less than 15 minutes; can annotate SNPs, MNPs, and insertions and deletions; Provides assessment of impa...ription: Combined Annotation Dependent Depletion; tool for scoring SNV deletions/insertions; “integrate...
2923 days ago
+3 more Top-level pages

- Shruti Paniwala@shruti
Scalpel
...has released an algorithm, called Scalpel, for finding insertions and deletions in next generation sequencin...to the reference genome cannot obscure the presence of an insertion or deletion. Scalpel's innovation is to r...
3560 days ago
- Strand@Strand
Webinar on Diagnosis of Rare Diseases using NGS Based Multi-gene Testing- Case studies by Dr.Aparna Ganapathy on 18 Apr 2018
...re diseases focuses mostly on sequencing of fewer genes, followed by a deletion/duplica-tion analysis by mult...encing) can allow us to detect all types of mutations, including large deletions/duplications, thus allowing...
2253 days ago

- Rahul Nayak@rahul
Dr. Ken Buetow: IS & Personalized Medicine Lecture-Part 1
...nd accurately computationally identify variants. More recently, the analytic approaches have been extended to systematically identify insertion/deletion variation, translocations, an...
3885 days ago

- BioStar@biostar
Comment on "Read Simulators"
...including Illumina, PacBio, and Oxford Nanopore. It can also simulate different types of sequencing errors, such as substitution, insertion, and deletion errors. dwgsim: dwgsim i...
430 days ago
- Jit@jit.aber
Comment on "LAMSA: fast split read alignment with long approximate matches"
...h penalty for SW-alignment. [3] -O --open-pen [INT(,INT,INT,INT)] Gap open penalty for SW-alignment(end2end-global: insertion, deletion, one-end-extend: insertion, deletion). [5(,5,5,5)] -E --ext-pen [I...
2137 days ago