This is a container image that runs DDIG version 3.1. DDIG supports prediction of protein-coding non-frameshifting (NFS) indels, frameshifting (FS) indels, nonsense (protein-truncating) and synonymous (same-sense, silent) variants in the GRCh37/hg19 assembly of the human genome. $ singularity run-help ddig.sif --- If you use DDIG for synonymous variants, please cite: M. Livingstone*, L. Folkman*, Y. Yang, P. Zhang, M. Mort, D. N. Cooper, Y. Liu, B. Stantic, and Y. Zhou, "Investigating DNA, RNA and protein-based features as a means to discriminate pathogenic synonymous variants.", Human Mutation 38: 1336-1347 (2017). [https://doi.org/10.1002/humu.23283] --- If you use ...
Indels in the coding regions of a gene can either cause frameshifts or amino acid insertions/deletio...
Abstract Although we now routinely sequence human genomes, we can confidently identify only a fracti...
Motivation: There are now many predictors capable of identifying the likely phenotypic effects of si...
Motivation: Frameshifting (FS) indels and nonsense (NS) variants disrupt the protein-coding sequence...
Micro-indels (insertions or deletions shorter than 21 bps) constitute the second most frequent class...
poster abstractMicro-INDELs (insertions or deletions of ≤20 bp) constitute the second most frequent ...
This is a container image that runs EASE-MM version 1.1. EASE-MM supports prediction of mis...
Abstract Background Although synonymous single nucleotide variants (sSNVs) do not alter the protein ...
Synonymous single-nucleotide variants (SNVs), although they do not alter the encoded protein sequenc...
International audienceBACKGROUND: Small insertion and deletion polymorphisms (Indels) are the second...
Insertion/deletion variants (indels) alter protein sequence and length, yet are highly prevalent in ...
Rapid technological advances are providing unprecedented insights in the biologicalsciences, with ma...
BACKGROUND: Small insertion and deletion polymorphisms (Indels) are the second most common mutations...
Indels in the coding regions of a gene can either cause frameshifts or amino acid insertions/deletio...
The rapidly developing sequencing technology has brought up an opportunity to scientists to look int...
Indels in the coding regions of a gene can either cause frameshifts or amino acid insertions/deletio...
Abstract Although we now routinely sequence human genomes, we can confidently identify only a fracti...
Motivation: There are now many predictors capable of identifying the likely phenotypic effects of si...
Motivation: Frameshifting (FS) indels and nonsense (NS) variants disrupt the protein-coding sequence...
Micro-indels (insertions or deletions shorter than 21 bps) constitute the second most frequent class...
poster abstractMicro-INDELs (insertions or deletions of ≤20 bp) constitute the second most frequent ...
This is a container image that runs EASE-MM version 1.1. EASE-MM supports prediction of mis...
Abstract Background Although synonymous single nucleotide variants (sSNVs) do not alter the protein ...
Synonymous single-nucleotide variants (SNVs), although they do not alter the encoded protein sequenc...
International audienceBACKGROUND: Small insertion and deletion polymorphisms (Indels) are the second...
Insertion/deletion variants (indels) alter protein sequence and length, yet are highly prevalent in ...
Rapid technological advances are providing unprecedented insights in the biologicalsciences, with ma...
BACKGROUND: Small insertion and deletion polymorphisms (Indels) are the second most common mutations...
Indels in the coding regions of a gene can either cause frameshifts or amino acid insertions/deletio...
The rapidly developing sequencing technology has brought up an opportunity to scientists to look int...
Indels in the coding regions of a gene can either cause frameshifts or amino acid insertions/deletio...
Abstract Although we now routinely sequence human genomes, we can confidently identify only a fracti...
Motivation: There are now many predictors capable of identifying the likely phenotypic effects of si...