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Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
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Outgoing claims: the papers this work cites, builds on, or argues with.
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Human Gene Mutation Database (HGMD®): 2003 update
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A map of human genome variation from population-scale sequencing
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A framework for variation discovery and genotyping using next-generation DNA sequencing data
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Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
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inferred← citeshttps://doi.org/10.1038/s41593-024-01829-7openalex-snapshot
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inferred← citeshttps://doi.org/10.1038/s41598-019-39108-2openalex-snapshot
Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings
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PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease
inferred← citeshttps://doi.org/10.1038/s41598-019-44473-zopenalex-snapshot
Analysis of whole Y-chromosome sequences reveals the Japanese population history in the Jomon period
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inferred← citeshttps://doi.org/10.1038/s41598-020-72474-wopenalex-snapshot
Understanding salt tolerance mechanism using transcriptome profiling and de novo assembly of wild tomato Solanum chilense
inferred← citeshttps://doi.org/10.1038/s41598-021-88585-xopenalex-snapshot
Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients
inferred← citeshttps://doi.org/10.1038/s41598-021-99747-2openalex-snapshot
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
inferred← citeshttps://doi.org/10.1038/s41598-024-51958-zopenalex-snapshot
Empirical Bayes single nucleotide variant-calling for next-generation sequencing data
inferred← citeshttps://doi.org/10.1038/s41698-024-00519-8openalex-snapshot
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inferred← citeshttps://doi.org/10.1038/srep24607openalex-snapshot
A somatic reference standard for cancer genome sequencing
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inferred← citeshttps://doi.org/10.1073/pnas.1707945114openalex-snapshot
Fast and accurate HLA typing from short-read next-generation sequence data with xHLA
inferred← citeshttps://doi.org/10.1073/pnas.1713830114openalex-snapshot
Need for speed in accurate whole-genome data analysis: GENALICE MAP challenges BWA/GATK more than PEMapper/PECaller and Isaac
inferred← citeshttps://doi.org/10.1084/jem.20151775openalex-snapshot
Genetically distinct leukemic stem cells in human CD34− acute myeloid leukemia are arrested at a hemopoietic precursor-like stage
inferred← citeshttps://doi.org/10.1093/bfgp/elx006openalex-snapshot
Recent advances in sequence assembly: principles and applications
inferred← citeshttps://doi.org/10.1093/bioinformatics/btaa514openalex-snapshot
Reference bias in the Illumina Isaac aligner
inferred← citeshttps://doi.org/10.1093/bioinformatics/btaa753openalex-snapshot
REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data
inferred← citeshttps://doi.org/10.1093/bioinformatics/btu553openalex-snapshot
Acceleration of short and long DNA read mapping without loss of accuracy using suffix array
inferred← citeshttps://doi.org/10.1093/bioinformatics/btv275openalex-snapshot
RVD2: an ultra-sensitive variant detection model for low-depth heterogeneous next-generation sequencing data
inferred← citeshttps://doi.org/10.1093/bioinformatics/btv440openalex-snapshot
FermiKit: assembly-based variant calling for Illumina resequencing data
inferred← citeshttps://doi.org/10.1093/bioinformatics/btw797openalex-snapshot
VarMatch: robust matching of small variant datasets using flexible scoring schemes
inferred← citeshttps://doi.org/10.1093/brain/awac279openalex-snapshot
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1093/database/baz146openalex-snapshot
KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing
inferred← citeshttps://doi.org/10.1093/gigascience/gix045openalex-snapshot
16GT: a fast and sensitive variant caller using a 16-genotype probabilistic model
inferred← citeshttps://doi.org/10.1093/hmg/ddy334openalex-snapshot
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)
inferred← citeshttps://doi.org/10.1093/molbev/msx239openalex-snapshot
New Insights into the Genetic Basis of Monge’s Disease and Adaptation to High-Altitude
inferred← citeshttps://doi.org/10.1093/nar/gkab224openalex-snapshot
Genome-wide characterization of human minisatellite VNTRs: population-specific alleles and gene expression differences
inferred← citeshttps://doi.org/10.1093/narcan/zcab004openalex-snapshot
Mutational signatures associated with exposure to carcinogenic microplastic compounds bisphenol A and styrene oxide
inferred← citeshttps://doi.org/10.1093/narcan/zcab040openalex-snapshot
UNMASC: tumor-only variant calling with unmatched normal controls
inferred← citeshttps://doi.org/10.1093/pcmedi/pbag003openalex-snapshot
Therapeutic strategy for cervical gastric-type adenocarcinoma by targeting CLU to relieve CLU-associated stress and sensitize chemotherapy
inferred← citeshttps://doi.org/10.1097/ogx.0000000000000604openalex-snapshot
Germline De Novo Mutation Clusters Arise During Oocyte Aging in Genomic Regions With High Double-Strand-Break Incidence
inferred← citeshttps://doi.org/10.1101/2020.05.05.077966openalex-snapshot
Cyrius: accurate CYP2D6 genotyping using whole genome sequencing data
inferred← citeshttps://doi.org/10.1101/2021.04.06.438687openalex-snapshot
Deep oncopanel sequencing reveals fixation time- and within block position-dependent quality degradation in FFPE processed samples
inferred← citeshttps://doi.org/10.1101/2021.06.03.446863openalex-snapshot
Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3′UTR in Amyotrophic Lateral Sclerosis
inferred← citeshttps://doi.org/10.1101/2021.10.19.462578openalex-snapshot
Uncovering the Genetic Architecture of Broad Antisocial Behavior through a Genome-Wide Association Study Meta-analysis
inferred← citeshttps://doi.org/10.1101/2022.03.08.481329openalex-snapshot
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis -regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
inferred← citeshttps://doi.org/10.1101/2022.10.25.513331openalex-snapshot
Ultra-fast joint-genotyping with SparkGOR
inferred← citeshttps://doi.org/10.1101/2022.11.03.22281905openalex-snapshot
Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis
inferred← citeshttps://doi.org/10.1101/2023.01.19.23284597openalex-snapshot
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism
inferred← citeshttps://doi.org/10.1101/2023.02.15.528687openalex-snapshot
Precise and ultrafast tandem repeat variant detection in massively parallel sequencing reads
inferred← citeshttps://doi.org/10.1101/2023.05.10.23289736openalex-snapshot
Functional filter for whole genome sequence data identifies stress impact, non-coding alternate polyadenylation site variants >5kb from coding DNA
inferred← citeshttps://doi.org/10.1101/2023.07.19.23292817openalex-snapshot
Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts
inferred← citeshttps://doi.org/10.1101/2024.04.03.587925openalex-snapshot
Deciphering the role of germline complex de novo structural variations in rare disorders
inferred← citeshttps://doi.org/10.1101/2024.05.23.595509openalex-snapshot
A dedicated caller for DUX4 rearrangements from whole-genome sequencing data
inferred← citeshttps://doi.org/10.1101/2024.11.15.623736openalex-snapshot
Single MAPT knock-in mouse models of frontotemporal dementia for sharing with the neurodegenerative research community
inferred← citeshttps://doi.org/10.1101/2025.11.20.25340655openalex-snapshot
Germline haploinsufficiency for the base excision repair gene MUTYH causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancer
inferred← citeshttps://doi.org/10.1101/2025.11.28.691220openalex-snapshot
Integrated proteogenomics uncovers ancestry-specific and shared molecular drivers in localized prostate cancer
inferred← citeshttps://doi.org/10.1101/343970openalex-snapshot
GLnexus: joint variant calling for large cohort sequencing
inferred← citeshttps://doi.org/10.1101/397935openalex-snapshot
HTSlib-js: Developer toolkit for a client-side JavaScript interface for HTSlib
inferred← citeshttps://doi.org/10.1101/770339openalex-snapshot
Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation
inferred← citeshttps://doi.org/10.1101/836171openalex-snapshot
Correcting reference bias from the Illumina Isaac aligner enables analysis of cancer genomes
inferred← citeshttps://doi.org/10.1101/863035openalex-snapshot
ExpansionHunter Denovo: A computational method for locating known and novel repeat expansions in short-read sequencing data
inferred← citeshttps://doi.org/10.1101/gr.199588.115openalex-snapshot
Genome-wide target specificities of CRISPR-Cas9 nucleases revealed by multiplex Digenome-seq
inferred← citeshttps://doi.org/10.1101/gr.210500.116openalex-snapshot
A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree
inferred← citeshttps://doi.org/10.1101/gr.225672.117openalex-snapshot
Detection of long repeat expansions from PCR-free whole-genome sequence data
inferred← citeshttps://doi.org/10.1101/gr.255349.119openalex-snapshot
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes
inferred← citeshttps://doi.org/10.1101/mcs.a001362openalex-snapshot
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer
inferred← citeshttps://doi.org/10.1101/mcs.a002055openalex-snapshot
Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy
inferred← citeshttps://doi.org/10.1101/mcs.a002360openalex-snapshot
Mutation in an alternative transcript ofCDKL5in a boy with early-onset seizures
inferred← citeshttps://doi.org/10.1101/mcs.a006143openalex-snapshot
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome
inferred← citeshttps://doi.org/10.1109/bibe.2015.7367654openalex-snapshot
Optimization of data-intensive next generation sequencing in high performance computing
inferred← citeshttps://doi.org/10.1109/tpds.2018.2839578openalex-snapshot
mSNP: A Massively Parallel Algorithm for Large-Scale SNP Detection
inferred← citeshttps://doi.org/10.1111/cas.16324openalex-snapshot
Chromosome aberrations cause tumorigenesis through chromosomal rearrangements in a hepatocarcinogenesis rat model
inferred← citeshttps://doi.org/10.1111/cge.13190openalex-snapshot
Clinical sequencing: From raw data to diagnosis with lifetime value
inferred← citeshttps://doi.org/10.1111/imm.70098openalex-snapshot
Genetic Determinants of Peanut‐Specific IgG4 Levels in the Context of Sustained Oral Peanut Exposure in the LEAP Study
inferred← citeshttps://doi.org/10.1111/jbg.12721openalex-snapshot
Genetic and genomic analysis of oxygen consumption in mice
inferred← citeshttps://doi.org/10.1126/science.aah5238openalex-snapshot
Negative selection in humans and fruit flies involves synergistic epistasis
inferred← citeshttps://doi.org/10.1126/science.abj4784openalex-snapshot
Heritable defects in telomere and mitotic function selectively predispose to sarcomas
inferred← citeshttps://doi.org/10.1126/scitranslmed.aav5264openalex-snapshot
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology
inferred← citeshttps://doi.org/10.1126/scitranslmed.ads6166openalex-snapshot
The landscape of microbial associations in human cancer
inferred← citeshttps://doi.org/10.1136/bmjopen-2018-028717openalex-snapshot
Relationships between the clinical phenotypes and genetic variants associated with the immunological mechanism in childhood idiopathic nephrotic syndrome: protocol for a prospective observational single-centre cohort study
inferred← citeshttps://doi.org/10.1136/gutjnl-2016-313334openalex-snapshot
MED12is recurrently mutated in Middle Eastern colorectal cancer
inferred← citeshttps://doi.org/10.1136/jitc-2023-007073openalex-snapshot
Current perspectives on mass spectrometry-based immunopeptidomics: the computational angle to tumor antigen discovery
inferred← citeshttps://doi.org/10.1136/jmedgenet-2017-105125openalex-snapshot
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
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