Standout Papers
Citation Impact
Citing Papers
Histone demethylase KDM6A directly senses oxygen to control chromatin and cell fate
2019 StandoutScienceNobel
SnpHub: an easy-to-set-up web server framework for exploring large-scale genomic variation data in the post-genomic era with applications in wheat
2020
TIMER: A Web Server for Comprehensive Analysis of Tumor-Infiltrating Immune Cells
2017 Standout
A genomic region associated with protection against severe COVID-19 is inherited from Neandertals
2021 StandoutNobel
Two isoforms of the essential C. elegans Argonaute CSR-1 differentially regulate sperm and oocyte fertility
2021 StandoutNobel
A Novel Germline Variant in CSF3R Reduces N-Glycosylation and Exerts Potent Oncogenic Effects in Leukemia
2018 StandoutNobel
Caenorhabditis elegans ADAR editing and the ERI-6/7/MOV10 RNAi pathway silence endogenous viral elements and LTR retrotransposons
2020 StandoutNobel
Paired Exome Analysis Reveals Clonal Evolution and Potential Therapeutic Targets in Urothelial Carcinoma
2016
Denisovan ancestry and population history of early East Asians
2020 StandoutScienceNobel
RNA splicing is a primary link between genetic variation and disease
2016 Science
High burden and pervasive positive selection of somatic mutations in normal human skin
2015 StandoutScience
Mouse models of acute and chronic hepacivirus infection
2017 StandoutScienceNobel
The Ensembl Variant Effect Predictor
2016 Standout
PD-1 expression by tumour-associated macrophages inhibits phagocytosis and tumour immunity
2017 StandoutNature
Rapid draft sequencing and real-time nanopore sequencing in a hospital outbreak of Salmonella
2015
Application of single-cell RNA sequencing in optimizing a combinatorial therapeutic strategy in metastatic renal cell carcinoma
2016
Beyond genomic variation - comparison and functional annotation of three Brassica rapagenomes: a turnip, a rapid cycling and a Chinese cabbage
2014
2018
VIPER: Visualization Pipeline for RNA-seq, a Snakemake workflow for efficient and complete RNA-seq analysis
2018
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
2020
Excess of rare, inherited truncating mutations in autism
2015
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
2016 Standout
Mechanisms of SARS-CoV-2 entry into cells
2021 Standout
Pilon: An Integrated Tool for Comprehensive Microbial Variant Detection and Genome Assembly Improvement
2014 Standout
Vcfanno: fast, flexible annotation of genetic variants
2016
Pseudomonas aeruginosa cleaves the decoding center of Caenorhabditis elegans ribosomes
2020 StandoutNobel
Inflammation and Cancer: Triggers, Mechanisms, and Consequences
2019 Standout
GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
2013
Cancer Evolution Is Associated with Pervasive Positive Selection on Globally Expressed Genes
2014
Root exudate metabolites drive plant-soil feedbacks on growth and defense by shaping the rhizosphere microbiota
2018 Standout
A review of post-GWAS prioritization approaches
2013
The evolving landscape of biomarkers for checkpoint inhibitor immunotherapy
2019 Standout
The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity
2015
tRNAscan-SE On-line: integrating search and context for analysis of transfer RNA genes
2016 Standout
Transforming Growth Factor-β Signaling in Immunity and Cancer
2019 Standout
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis
2020
Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes
2016
Graph-based genome alignment and genotyping with HISAT2 and HISAT-genotype
2019 Standout
Creation of Functional Viruses from Non-Functional cDNA Clones Obtained from an RNA Virus Population by the Use of Ancestral Reconstruction
2015
Clonal Heterogeneity and Tumor Evolution: Past, Present, and the Future
2017 Standout
agriGO v2.0: a GO analysis toolkit for the agricultural community, 2017 update
2017 Standout
A Neanderthal Sodium Channel Increases Pain Sensitivity in Present-Day Humans
2020 StandoutNobel
Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections
2021
Computational genomics tools for dissecting tumour–immune cell interactions
2016
Cancer stem cells revisited
2017 Standout
A microRNA program in the C. elegans hypodermis couples to intestinal mTORC2/PQM-1 signaling to modulate fat transport
2016 StandoutNobel
HOTTIP lncRNA Promotes Hematopoietic Stem Cell Self-Renewal Leading to AML-like Disease in Mice
2019
Hippo Pathway in Organ Size Control, Tissue Homeostasis, and Cancer
2015 Standout
Whole Genome Sequencing and Spatial Analysis Identifies Recent Tuberculosis Transmission Hotspots in Ghana
2020
Stromal gene expression defines poor-prognosis subtypes in colorectal cancer
2015
Settling the score: variant prioritization and Mendelian disease
2017
GtRNAdb 2.0: an expanded database of transfer RNA genes identified in complete and draft genomes
2015
The pangenome of an agronomically important crop plant Brassica oleracea
2016 Standout
Myeloid Cell-Derived Reactive Oxygen Species Induce Epithelial Mutagenesis
2017
Liquid biopsies come of age: towards implementation of circulating tumour DNA
2017 Standout
Choice of transcripts and software has a large effect on variant annotation
2014
EMT: 2016
2016 Standout
The major genetic risk factor for severe COVID-19 is inherited from Neanderthals
2020 StandoutNatureNobel
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in Combination with Ipilimumab in Small-Cell Lung Cancer
2018
Macrophages as regulators of tumour immunity and immunotherapy
2019 Standout
Biosynthesis of 8-O-methylated benzoxazinoid defense compounds in maize
2016
Single-Cell Transcriptomic Analysis of Primary and Metastatic Tumor Ecosystems in Head and Neck Cancer
2017 Standout
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Low Input Whole-Exome Sequencing to Determine the Representation of the Tumor Exome in Circulating DNA of Non-Small Cell Lung Cancer Patients
2016
GAVIN: Gene-Aware Variant INterpretation for medical sequencing
2017
A survey of tools for variant analysis of next-generation genome sequencing data
2013
Approximation to the Distribution of Fitness Effects across Functional Categories in Human Segregating Polymorphisms
2014
Gene regulation by long non-coding RNAs and its biological functions
2020 Standout
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Hypoxia-inducible factor induces cysteine dioxygenase and promotes cysteine homeostasis in Caenorhabditis elegans
2023 StandoutNobel
Natural Genetic Variation in the Caenorhabditis elegans Response to Pseudomonas aeruginosa
2017
Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells
2014
Pivoting the Plant Immune System from Dissection to Deployment
2013 StandoutScience
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization
2015
Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline
2014
Lysosomal activity regulatesCaenorhabditis elegansmitochondrial dynamics through vitamin B12 metabolism
2020 StandoutNobel
Excavating Neandertal and Denisovan DNA from the genomes of Melanesian individuals
2016 StandoutScienceNobel
Genetic dissection of colorectal cancer progression by orthotopic transplantation of engineered cancer organoids
2017
CloudMap: A Cloud-Based Pipeline for Analysis of Mutant Genome Sequences
2012
Regulation of Caenorhabditis elegans neuronal polarity by heterochronic genes
2019 StandoutNobel
The rise and fall of the Phytophthora infestans lineage that triggered the Irish potato famine
2013
Tumor Immunity and Survival as a Function of Alternative Neopeptides in Human Cancer
2018
The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update
2018 Standout
Draft genome assembly and annotation of Glycyrrhiza uralensis, a medicinal legume
2016
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
2015
B cell–intrinsic TBK1 is essential for germinal center formation during infection and vaccination in mice
2021 StandoutNobel
A De Novo Mutation inTEAD1Causes Non–X-Linked Aicardi Syndrome
2015
The DisGeNET knowledge platform for disease genomics: 2019 update
2019 Standout
MHC proteins confer differential sensitivity to CTLA-4 and PD-1 blockade in untreated metastatic melanoma
2018
High-Throughput Cloning of Temperature-Sensitive Caenorhabditis elegans Mutants with Adult Syncytial Germline Membrane Architecture Defects
2015
ape 5.0: an environment for modern phylogenetics and evolutionary analyses in R
2018 Standout
Natural Variation in the Distribution and Abundance of Transposable Elements Across the Caenorhabditis elegans Species
2017
A high-coverage Neandertal genome from Chagyrskaya Cave
2020 StandoutNobel
Cancer immunotherapy using checkpoint blockade
2018 StandoutScience
A single-nucleotide polymorphism in a Plasmodium berghei ApiAP2 transcription factor alters the development of host immunity
2020
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Works of Pablo Cingolani being referenced
Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift
2012
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
2012 Standout