Contact and support
Need help, have a question, or want to contact the ResearchHub team?
© 2026 ResearchHub. Built for responsible scholarly connection.
Privacy-aware community infrastructureResearch graph
References from Benchmarking of Nanopore R10.4 and R9.4.1 flow cells in single-cell whole-genome amplification and whole-genome shotgun sequencing. Local targets link to admitted publications; unresolved targets remain external evidence.
Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 · External reference
100,000 Genomes pilot on rare-disease diagnosis in health care - preliminary report
10.1056/nejmoa2035790 · 2021 · External reference
The emerging clinical relevance of genomics in cancer medicine
10.1038/s41571-018-0002-6 · 2018 · External reference
Zseq: an approach for preprocessing next-generation sequencing data
10.1089/cmb.2017.0021 · 2017 · External reference
A window into third-generation sequencing
10.1093/hmg/ddq416 · 2010 · External reference
Opportunities and challenges in long-read sequencing data analysis
10.1186/s13059-020-1935-5 · 2020 · External reference
Rapid metagenomic identification of viral pathogens in clinical samples by real-time nanopore sequencing analysis
10.1186/s13073-015-0220-9 · 2015 · External reference
Nanopore sequencing technology, bioinformatics and applications
10.1038/s41587-021-01108-x · 2021 · External reference
10.12688/f1000research.11354.1
10.12688/f1000research.11354.1 · External reference
Oxford Nanopore R10.4 long-read sequencing enables the generation of near-finished bacterial genomes from pure cultures and metagenomes without short-read or reference polishing
10.1038/s41592-022-01539-7 · 2022 · External reference
Systematic benchmarking of nanopore Q20+ kit in SARS-CoV-2 whole genome sequencing
10.3389/fmicb.2022.973367 · 2022 · External reference
Unresolved reference
External reference
Systematic benchmarking of tools for CpG methylation detection from nanopore sequencing
10.1038/s41467-021-23778-6 · 2021 · External reference
Detecting DNA cytosine methylation using nanopore sequencing
10.1038/nmeth.4184 · 2017 · External reference
Unresolved reference
External reference
Metastatic non-small-cell lung cancer (NSCLC): ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up
10.1093/annonc/mdu199 · 2014 · External reference
Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity
10.1038/s41467-022-31866-4 · 2022 · External reference
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
10.1038/s41436-018-0295-y · 2019 · External reference
Circulating tumor cell copy-number heterogeneity in ALK-rearranged non-small-cell lung cancer resistant to ALK inhibitors
10.1038/s41698-021-00203-1 · 2021 · External reference
Whole-exome sequencing of circulating tumor cells provides a window into metastatic prostate cancer
10.1038/nbt.2892 · 2014 · External reference
Detection of early seeding of Richter transformation in chronic lymphocytic leukemia
10.1038/s41591-022-01927-8 · 2022 · External reference
Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation
10.1136/jmedgenet-2014-102497 · 2014 · External reference
Single-cell whole-genome amplification and sequencing: methodology and applications
10.1146/annurev-genom-090413-025352 · 2015 · External reference
Comprehensive human genome amplification using multiple displacement amplification
10.1073/pnas.082089499 · 2002 · External reference
Genome-wide detection of single-nucleotide and copy-number variations of a single human cell
10.1126/science.1229164 · 2012 · External reference
De novo assembly of human genome at single-cell levels
10.1093/nar/gkac586 · 2022 · External reference
SMOOTH-seq: single-cell genome sequencing of human cells on a third-generation sequencing platform
10.1186/s13059-021-02406-y · 2021 · External reference
Prevalence of human papillomavirus 16/18/33 infection and p53 mutation in lung adenocarcinoma
10.1111/j.1349-7006.2010.01622.x · 2010 · External reference
Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer
10.1016/j.cell.2007.11.025 · 2007 · External reference
A comprehensive transcriptional portrait of human cancer cell lines
10.1038/nbt.3080 · 2015 · External reference
Whole genome copy number analyses reveal a highly aberrant genome in TP53 mutant lung adenocarcinoma tumors
10.1186/s12885-021-08811-7 · 2021 · External reference
Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations
10.1016/j.cell.2011.12.013 · 2012 · External reference
Minimap2: pairwise alignment for nucleotide sequences
10.1093/bioinformatics/bty191 · 2018 · External reference
The Sequence Alignment/Map format and SAMtools
10.1093/bioinformatics/btp352 · 2009 · External reference
Unresolved reference
External reference
Unresolved reference
External reference
EnrichedHeatmap: an R/Bioconductor package for comprehensive visualization of genomic signal associations
10.1186/s12864-018-4625-x · 2018 · External reference
Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities
10.1016/j.molcel.2010.05.004 · 2010 · External reference
Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data
10.1093/bioinformatics/btr670 · 2012 · External reference
Long-read-based human genomic structural variation detection with cuteSV
10.1186/s13059-020-02107-y · 2020 · External reference
Integrative genomics viewer (IGV): high-performance genomics data visualization and exploration
10.1093/bib/bbs017 · 2013 · External reference
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
10.1093/bioinformatics/btr509 · 2011 · External reference
BEDTools: a flexible suite of utilities for comparing genomic features
10.1093/bioinformatics/btq033 · 2010 · External reference
From squiggle to basepair: computational approaches for improving nanopore sequencing read accuracy
10.1186/s13059-018-1462-9 · 2018 · External reference
Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues
10.1093/nar/gkab1179 · 2021 · External reference
Association of 5-hydroxymethylation and 5-methylation of DNA cytosine with tissue-specific gene expression
10.1080/15592294.2016.1265713 · 2017 · External reference
Tissue type is a major modifier of the 5-hydroxymethylcytosine content of human genes
10.1101/gr.126417.111 · 2012 · External reference
Comparing a few SNP calling algorithms using low-coverage sequencing data
10.1186/1471-2105-14-274 · 2013 · External reference
Evaluation of Oxford Nanopore's MinION Sequencing Device for Microbial Whole Genome Sequencing Applications
10.1038/s41598-018-29334-5 · 2018 · External reference
Error rates for nanopore discrimination among cytosine, methylcytosine, and hydroxymethylcytosine along individual DNA strands
10.1073/pnas.1310615110 · 2013 · External reference
Sequencing DNA with nanopores: troubles and biases
10.1371/journal.pone.0257521 · 2021 · External reference
Random-primed, Phi29 DNA polymerase-based whole genome amplification
10.1002/0471142727.mb1513s105 · 2014 · External reference
Multiple displacement amplification to create a long-lasting source of DNA for genetic studies
10.1002/humu.20341 · 2006 · External reference
Non-small cell lung cancer: epidemiology, screening, diagnosis, and treatment
10.1016/j.mayocp.2019.01.013 · 2019 · External reference
