ArticleGenome biology2013
DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels.
Article in Genome biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed.
- Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting.Human genetics · 2025Article
- Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors.Human genomics · 2024Article
- Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.bioRxiv : the preprint server for biology · 2024Article
- A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.Journal of molecular neuroscience : MN · 2023Article
- WGS Revealed NovelInternational journal of molecular sciences · 2023Article
- Structural Dynamics Predominantly Determine the Adaptability of Proteins to Amino Acid Deletions.International journal of molecular sciences · 2023Article
- SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants.Briefings in bioinformatics · 2023Article
- Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.The Journal of molecular diagnostics : JMD · 2022Article
- MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning.Genome medicine · 2022Article
- A homozygous in-frame duplication within the LRRCT consensus sequence ofOphthalmic genetics · 2022Article
- Prediction of functional microexons by transfer learning.BMC genomics · 2021Article
- Discovering the Ultimate Limits of Protein Secondary Structure Prediction.Biomolecules · 2021Article
- Structural and functional analysis of somatic coding and UTR indels in breast and lung cancer genomes.Scientific reports · 2021Article
- Insertions and deletions in the RNA sequence-structure map.Journal of the Royal Society, Interface · 2021Article
- The influence of dataset homology and a rigorous evaluation strategy on protein secondary structure prediction.PloS one · 2021Article
- Comparative assessments of indel annotations in healthy and cancer genomes with next-generation sequencing data.BMC medical genomics · 2020Article
- A simple strategy to enhance the speed of protein secondary structure prediction without sacrificing accuracy.PloS one · 2020Article
- Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.Molecular medicine reports · 2019Article
- RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants.Genome biology · 2019Article
- Predicting functional long non-coding RNAs validated by low throughput experiments.RNA biology · 2019Article
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8 authors.
Funding
Abstract
Micro-indels (insertions or deletions shorter than 21 bps) constitute the second most frequent class of human gene mutation after single nucleotide variants. Despite the relative abundance of non-frameshifting indels, their damaging effect on protein structure and function has gone largely unstudied. We have developed a support vector machine-based method named DDIG-in (Detecting disease-causing genetic variations due to indels) to prioritize non-frameshifting indels by comparing disease-associated mutations with putatively neutral mutations from the 1,000 Genomes Project. The final model gives good discrimination for indels and is robust against annotation errors. A webserver implementing DDIG-in is available at http://sparks-lab.org/ddig.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.