Results for "Rare variants"
Top-level pages
Genomics is the study of the genomes of organisms. The field includes intensive efforts to determine the entire D...ge of the sequence and will apply its data to the better understanding of both rare and...3930 days ago
List of bioinformatics open source projects/software.
Open source software is software that can be freely use...p://www.gene-talk.de/ Tool for filtering sequence variants in VCF files. Network for sci...exchange. Database of annotations aboute sequence variants with clinically relevant info...3744 days ago
List of generic simulation software/tools/resource with brief description and homepage !!!
...http://www.uhnresearch.ca/labs/tillier/software.htm#3SimRare Rare variant simulation and analys...ion of the introduction and evolution of (rare) genetic variants. http://simupop.sourceforge.net/cookbook/simurarevariantsSUP SLINK/FastSLINK utility pr...3725 days ago
Apps for Busy Bioinformatics Researchers !!!
DNAApp: DNAApp: for iPhone/iPad This is an iOS app that allows for the op...riations (CNVs), and loss of heterozygosity (LOH) events Quickly find variants of interest by filtering variants based on associated genes, fu...3529 days ago
List of Bioinformatics Software Tools for Next Generation Sequencing
...Description: calls common and rare variants in pool or individual NG...tion of heterozygous germline variants near candidate mutations&rdqu...terious Annotation of genetic variants; standalone program, uses &ld...associated with the following rare Mendelian blood disorders: Heredi...2896 days ago
- alignment: the mapping of a raw sequence...r identifying and filtering genomics variants. bowtie: widely used, open s...igher confidence for calling genomic variants. RNAME: reference genome ide...r identifying and filtering genomics variants. Created by Heng Li, currentl...
2857 days ago
Genome Assembly Tools and Software - PART1 !!
The genome assemblers generally take a file of short se..., maps them to the reference genome and then calls variants from the alignment to an accu...eads WhatsHap is a software for phasing genomic variants using DNA sequencing reads, a...2673 days ago
Quick next generation sequencing (NGS) terms definition
fragment size: the Illumina WGS protocol generates paired-end reads from both...be sampled from a normal distribution. Therefore, in the absence of structural variants, mapping locations of the pai...2510 days ago
Phylogenetic & Molecular Genetics Terms and Definitions
analog -- A feature that appears similar in two taxa which have originated from two different ancestors. ancesto...fer. Fairly common in certain land plant clades; reticulation is thought to be rare amo...2450 days ago
Alignment-free sequence comparison tools available for next-generation sequencing data analysis
kallisto Transcript abundance quantification from RNA-seq data (uses pseudoa...//github.com/ChimeRScope/ChimeRScope/wiki FastGT Genotyping of known SNV/SNP variants directly from raw NGS sequenc...2359 days ago
