ArticleScientific reports2022
System analysis of the sequencing quality of human whole exome samples on BGI NGS platform.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed.
- Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population.International journal of molecular sciences · 2026Article
- Prolonged Infections and Inflammatory Diseases in Common Variable Immune Deficiency as a Cause of AA Amyloidosis.Journal of clinical medicine · 2026Article
- A case of mixed histiocytosis (Erdheim-Chester disease and Langerhans cell histiocytosis) with STEAP3-associated anemia and type 4 hemochromatosis.Orphanet journal of rare diseases · 2026Article
- Comparative Enzymology and Biomass Hydrolysis Reveal Industrial Biorefining Potential ofMicroorganisms · 2026Article
- Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification.BMC genomics · 2026Article
- ACE-Dependent Alzheimer's Disease: Blood ACE Phenotyping of the Most Prevalent and DamagingBiomedicines · 2026Article
- Challenges in the detection and assembly of virus integration structures in human genomes.Frontiers in oncology · 2026Review
- A comprehensive analysis of the impact of genomic imbalance on gene expression in a poplar aneuploidy population.Communications biology · 2025Article
- Performance comparison of four exome capture platforms on DNBSEQ-Series high throughput sequencer.BMC genomics · 2025Article
- ACE-Dependent Alzheimer's Disease: Circulating ACE Phenotypes in Heterozygous Carriers of RareInternational journal of molecular sciences · 2025Article
- [DICER1-syndrome with manifestation of genital embryonal rhabdomyosarcoma in the first year of life: case report].Problemy endokrinologii · 2025Article
- Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.International journal of molecular sciences · 2025Article
- Experience in developing the human genome standard E701.NAR genomics and bioinformatics · 2025Article
- Heterozygous deletion of 10q24.31-q24.33- a new syndrome associated with multiple congenital anomalies: case report and literature review.Neurological research and practice · 2025Article
- Red Blood Cell-Related Phenotype-Genotype Correlations in Chronic and Acute Critical Illnesses (Traumatic Brain Injury Cohort and COVID-19 Cohort).International journal of molecular sciences · 2025Article
- Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio.BMC genomics · 2025Article
- High-throughput sequencing: a breakthrough in molecular diagnosis for precision medicine.Functional & integrative genomics · 2025Review
- Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review.Frontiers in medicine · 2025Article
- Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.International journal of molecular sciences · 2024Article
- Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer's Disease on Blood ACE Phenotype.Biomedicines · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors.
Funding
Abstract
Human exome sequencing is a classical method used in most medical genetic applications. The leaders in the field are the manufacturers of enrichment kits based on hybridization of cRNA or cDNA biotinylated probes specific for a genomic region of interest. Recently, the platforms manufactured by the Chinese company MGI Tech have become widespread in Europe and Asia. The reliability and quality of the obtained data are already beyond any doubt. However, only a few kits compatible with these sequencers can be used for such specific tasks as exome sequencing. We developed our own solution for library pre-capture pooling and exome enrichment with Agilent probes. In this work, using a set of the standard benchmark samples from the Platinum Genome collection, we demonstrate that the qualitative and quantitative parameters of our protocol which we called "RSMU_exome" exceed those of the MGI Tech kit. Our protocol allows for identifying more SNV and indels, generates fewer PCR duplicates, enables pooling of more samples in a single enrichment procedure, and requires less raw data to obtain results comparable with the MGI Tech's protocol. The cost of our protocol is also lower than that of MGI Tech's solution.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.