Extend the benchmarking indel set by manual review using the individual cell line sequencing data from the Sequencing Quality Control 2 (SEQC2) project

B Gong, D Li, Y Zhang, R Kusko, S Lababidi, Z Cao… - Scientific Reports, 2024 - nature.com
Accurate indel calling plays an important role in precision medicine. A benchmarking indel
set is essential for thoroughly evaluating the indel calling performance of bioinformatics …

Pathogenicity and functional impact of non-frameshifting insertion/deletion variation in the human genome

KA Pagel, D Antaki, AJ Lian, M Mort… - PLoS computational …, 2019 - journals.plos.org
Differentiation between phenotypically neutral and disease-causing genetic variation
remains an open and relevant problem. Among different types of variation, non-frameshifting …

Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors

YJ Lin, AS Menon, Z Hu, SE Brenner - Human Genomics, 2024 - Springer
Background Variant interpretation is essential for identifying patients' disease-causing
genetic variants amongst the millions detected in their genomes. Hundreds of Variant Impact …

PredCID: prediction of driver frameshift indels in human cancer

Z Yue, X Chu, J Xia - Briefings in Bioinformatics, 2021 - academic.oup.com
The discrimination of driver from passenger mutations has been a hot topic in the field of
cancer biology. Although recent advances have improved the identification of driver …

DLFF-ACP: Prediction of ACPs based on deep learning and multi-view features fusion

R Cao, M Wang, Y Bin, C Zheng - PeerJ, 2021 - peerj.com
An emerging type of therapeutic agent, anticancer peptides (ACPs), has attracted attention
because of its lower risk of toxic side effects. However process of identifying ACPs using …

Structural and functional analysis of somatic coding and UTR indels in breast and lung cancer genomes

J Chen, J Guo - Scientific Reports, 2021 - nature.com
Insertions and deletions (Indels) represent one of the major variation types in the human
genome and have been implicated in diseases including cancer. To study the features of …

VariBench, new variation benchmark categories and data sets

N Shirvanizadeh, M Vihinen - Frontiers in Bioinformatics, 2023 - frontiersin.org
Genetic variation data is nowadays easy to generate. Variation interpretation means the
description of the significance of variations, often in relation to disease. This is substantially …

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas …

EM Miller, NE Patterson, GM Gressel… - BMC Medical …, 2020 - Springer
Abstract Background The Cancer Genome Atlas identified four molecular subgroups of
endometrial cancer with survival differences based on whole genome, transcriptomic, and …

Predinid: predicting pathogenic inframe indels in human through graph convolution neural network with graph sampling technique

Z Yue, Y Xiang, G Chen, X Wang, K Li… - … /ACM Transactions on …, 2023 - ieeexplore.ieee.org
Inframe insertion/deletion (indel) variants may alter protein sequence and function, which
are closely related to an extensive variety of diseases. Although recent researches have …

DriverSubNet: a novel algorithm for identifying cancer driver genes by subnetwork enrichment analysis

D Zhang, Y Bin - Frontiers in genetics, 2021 - frontiersin.org
Identification of driver genes from mass non-functional passenger genes in cancers is still a
critical challenge. Here, an effective and no parameter algorithm, named DriverSubNet, is …