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Search results for variants genetics
genetics
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variants
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6 search results found
Graphtyper
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156
Population-scale genotyping using pangenome graphs
Rvtests
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95
Rare variant test software for next generation sequencing data
Variantkey
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34
Numerical Encoding for Human Genetic Variants
Phenopolis
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32
An Open Platform for Harmonisation & Analysis of Sequencing & Phenotype Data
Sviper
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28
Swipe your Structural Variants called on long (ONT/PacBio) reads with short exact (Illumina) reads.
Autopvs1
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23
An automatic classification tool for PVS1 interpretation of null variants
Genomeanalysismodule
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21
Welcome to the website and github repository for the Genome Analysis Module. This website will guide the learning experience for trainees in the UBC MSc Genetic Counselling Training Program, as they embark on a journey to learn about analyzing genomes.
Bcfanno
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12
A fast and flexible program to annotate/interpret genetic variants in VCF/BCF file
Seave
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12
Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores and annotations from popular disease databases. Seave stores genomic variation of all types and sizes, and allows filtering for specific inheritance patterns, quality values, allele frequencies and gene lists. Seave is open source and deployable locally, or on a cloud computing provider, and works readily with gene panel, exome and whole genome data, scaling fr
Algebra
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10
A Boolean Algebra for Genetic Variants
Mapit
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9
Code and Tutorials for Running the MArginal ePIstasis Test (MAPIT)
Variantconvert
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9
A customizable genetic variants file format converter.
River
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7
R package for RIVER (RNA-Informed Variant Effect on Regulation)
Mtseeker
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6
mitochondrial variant analysis tools
Vase
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5
Variant Annotation, Segregation and Exclusion for family or cohort based rare-disease sequencing studies.
Pdvcf
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5
Allows one to manipulate a VCF as a MultiIndex Pandas DataFrame
Plot Vcf
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5
visual analysis of your VCF files
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1-6 of 6 search results
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