Last updated: 2025/01/25
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Last updated: 2025/01/25
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- Demo Data
- TargetSeq-NCC Panel (T074V1)Demo Data
- TargetSeq-Pan-Cancer Panel (T364V1)Demo Data
- TargetSeq-HRR Panel (T420V1)Demo Data
- TargetSeq-HRD Panel (T382V1)Demo Data
- TargetSeq-HRD&HRR Panel v2 (T430V1)Demo Data
- TargetSeq-Hema Tumor Fusion RNA Panel (T508V1RNA)Demo Data
- BisCap-CpG Island Panel (TB018V1hg38)Demo Data
- AnchorSeq-Solid Tumor Fusion RNA Panel (AS382V1RNA)Demo Data
- TargetSeq-Human Mitochondria Panel (T033)Demo Data
- MultipSeq-Human Mitochondria Research Assay (for Illumina, A102V1)Demo Data
- TargetSeq-SARS-CoV-2 Panel (T363XV2)Demo Data
- TargetSeq-HBV Panel (T037V2)Demo Data
- TargetSeq-EBV Panel (T392XV1)Demo Data
- MultipSeq-SARS-CoV-2 Research Assay (for MGI DI, A186XV7)Demo Data
- MultipSeq-SARS-CoV-2 Research Assay (for Illumina, A186XV6)Demo Data
- TargetSeq-MHC Panel (T231V2)Demo Data
- TargetSeq-HLA Panel (T216V1)Demo Data
- MultipSeq-Rat BCR Research Assay (for MGI DI, A281V2BCR)Demo Data
- MultipSeq-Rat BCR Research Assay (for Illumina, A281V1BCR)Demo Data
- MultipSeq-Mouse TCR Research Assay (for MGI DI, A282V2TCR)Demo Data
- MultipSeq-Mouse TCR Research Assay (for Illumina, A282V1TCR)Demo Data
- MultipSeq-Mouse BCR Research Assay (for MGI DI, A282V2BCR)Demo Data
- MultipSeq-Mouse BCR Research Assay (for Illumina, A282V1BCR)Demo Data
- MultipSeq-Human TCR-β Research Assay (for MGI DI, A237V2TRB)Demo Data
- MultipSeq-Human TCR-β Research Assay (for Illumina, A237V1TRB)Demo Data
- MultipSeq-Human TCR Research Assay (for MGI DI, A237V2TCR)Demo Data
- MultipSeq-Human TCR Research Assay (for Illumina, A237V1TCR)Demo Data
- MultipSeq-Human BCR Research Assay (for MGI DI, A237V2BCR)Demo Data
- MultipSeq-Human BCR Research Assay (for Illumina, A237V1BCR)Demo Data
- AIExome-Human Exome Panel V3 - Tumor (T600V1ST)Demo Data
- AIExome-Human Exome Panel V3 - Inherit (T600V1G)Demo Data
- AIExome-Human Exome Panel V3 (T600V1)Demo Data
- Bed File
- TargetSeq-Pan-Cancer Panel (T364V1)Bed File
- TargetSeq-NCC Panel (T074V1)Bed File
- TargetSeq-HRR Panel (T420V1)Bed File
- TargetSeq-HRD Panel (T382V1)Bed File
- TargetSeq-HRD & HRR Panel v2 (T430V1)Bed File
- TargetSeq-Hema Tumor Fusion RNA Panel (T508V1RNA)Bed File
- BisCap-CpG Island Panel (TB018V1hg38)Bed File
- AnchorSeq-Solid Tumor Fusion RNA Panel (AS382V1RNA)Bed File
- TargetSeq-Human Mitochondria Panel (T033)Bed File
- MultipSeq-Human Mitochondria Research Assay (for Illumina, A102V1)Bed File
- TargetSeq-SARS-CoV-2 Panel (T363XV2)Bed File
- TargetSeq-HBV Panel (T037V2)Bed File
- TargetSeq-EBV Panel (T392XV1)Bed File
- MultipSeq-SARS-CoV-2 Research Assay (for MGI DI, A186XV7)Bed File
- MultipSeq-SARS-CoV-2 Research Assay (for Illumina, A186XV6)Bed File
- TargetSeq-MHC Panel (T231V2)Bed File
- TargetSeq-HLA Panel (T216V1)Bed File
- MultipSeq-Rat BCR Research Assay (for MGI DI, A281V2BCR)Bed File
- MultipSeq-Rat BCR Research Assay (for Illumina, A281V1BCR)Bed File
- MultipSeq-Mouse TCR Research Assay (for MGI DI, A282V2TCR)Bed File
- MultipSeq-Mouse TCR Research Assay (for Illumina, A282V1TCR)Bed File
- MultipSeq-Mouse BCR Research Assay (for MGI DI, A282V2BCR)Bed File
- MultipSeq-Mouse BCR Research Assay (for Illumina, A282V1BCR)Bed File
- MultipSeq-Human TCR-β Research Assay (for MGI DI, A237V2TRB)Bed File
- MultipSeq-Human TCR-β Research Assay (for Illumina, A237V1TRB)Bed File
- MultipSeq-Human TCR Research Assay (for MGI DI, A237V2TCR)Bed File
- MultipSeq-Human TCR Research Assay (for Illumina, A237V1TCR)Bed File
- MultipSeq-Human BCR Research Assay (for MGI DI, A237V2BCR)Bed File
- MultipSeq-Human BCR Research Assay (for Illumina, A237V1BCR)Bed File
- AIExome-Human Exome Panel V3 (T600V1)Bed File
- AIExome-Human Exome Panel V3 - Tumor (T600V1ST)Bed File
- AIExome-Human Exome Panel V3 - Inherit (T600V1G)Bed File
- Publications
- Landscape of pathogenic mutations in premature ovarian insufficiency
- A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms
- Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A
- Liver biopsy of chronic hepatitis B patients indicates HBV integration profile may complicate the endpoint and effect of entecavir treatment
- Identification of clinical implications and potential prognostic models of chromatin regulator mutations in multiple myeloma
- Target-Sequencing of Female Infertility Pathogenic Gene Panel and a Novel TUBB8 Loss-of-Function Mutation
- DeSP: a systematic DNA storage error simulation pipeline
- Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan
- A novel mutation located in the intermembrane space domain of AFG3L2 causes dominant optic atrophy through decreasing the stability of the encoded protein
- Novel Homozygous PADI6 Variants in Infertile Females with Early Embryonic Arrest
- Capturing 3D Chromatin Maps of Human Primary Monocytes: Insights From High-Resolution Hi-C
- Prevalence and prognostic significance of DNMT3A- and TET2- clonal haematopoiesis-driver mutations in patients presenting with ST-segment elevation myocardial infarction
- Association of variants m.T16172C and m.T16519C in whole mtDNA sequences with high altitude pulmonary edema in Han Chinese lowlanders
- HTLV-1 infection of donor-derived T cells might promote acute graft-versus-host disease following liver transplantation
- PCR Primer Design for the Rapidly Evolving SARS-CoV-2 Genome
- The dual role of glioma exosomal microRNAs: glioma eliminates tumor suppressor miR-1298-5p via exosomes to promote immunosuppressive effects of MDSCs
- The Effects and Underlying Mechanisms of Hepatitis B Virus X Gene Mutants on the Development of Hepatocellular Carcinoma
- Biallelic Variants in CFAP61 Cause Multiple Morphological Abnormalities of the Flagella and Male Infertility
- Self-reported sleep characteristics associated with dementia among rural-dwelling Chinese older adults: a population-based study
- Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns
- Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility
- Ancient plastid genomes solve the tree species mystery of the imperial wood
- An Efficient and User-Friendly Software for PCR Primer Design for Detection of Highly Variable Bacteria
- Ultra-deep multi-oncopanel sequencing of benchmarking samples with a wide range of variant allele frequencies
- A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals
- CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family
- A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?
- Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study
- Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases
- Identifying Rare Genetic Variants of Immune Mediators as Risk Factors for Autism Spectrum Disorder
- A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family.
- Phylogenomic tracing of asymptomatic transmission in a COVID-19 outbreak
- A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family
- Lrp6 dynamic expression in tooth development and mutations in oligodontia
- A new TEX11 mutation causes azoospermia and testicular meiotic arrest
- Disorder of sexual development males with XYY in blood have exactly X/XY/XYY mosaicism in gonad tissues
- The homozygous p.Tyr228Cys variant in CDC20 causes oocyte maturation arrest: an additional evidence supporting the causality between CDC20 mutation and female infertility
- Mutational analysis of a familial adenomatous polyposis pedigree with bile duct polyp phenotype
- Genomic insights into the formation of human populations in East Asia
- Derivation of induced pluripotent stem cells from one child suffering Potocki-Lupski syndrome
- Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules
- Functional study of novel PAX9 variants: The paired domain and non‐syndromic oligodontia
- Identification of a novel pathogenic COL4A3 gene mutation in a Chinese family with autosomal dominant Alport syndrome: A case report
- Paternal USP26 mutations raise Klinefelter syndrome risk in the offspring of mice and humans
- Two-step fitness selection for intra-host variations in SARS-CoV-2
- PTEN deficiency facilitates the therapeutic vulnerability to proteasome inhibitor bortezomib in gallbladder cancer
- Associations of the glycaemic control of diabetes with dementia and physical function in rural-dwelling older Chinese adults: A population-based study
- A novel, personalized drug-screening system for platinum-resistant ovarian cancer patients: A preliminary clinical report
- The HuaBiao project: whole-exome sequencing of 5000 Han Chinese individuals
- Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions
- Genetic landscape of common venous malformations in the head and neck
- Development and application of a TaqMan-based real-time PCR assay for specifically detecting feline astrovirus
- Whole genome sequencing of 10K patients with acute ischaemic stroke or transient ischaemic attack: Design, methods and baseline patient characteristics
- Mucin mutations and aberrant expression are associated with the pathogenesis of immune thrombocytopenia
- Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation
- Identification of a Novel CCM1 Frameshift Mutation in a Chinese Han Family With Multiple Cerebral Cavernous Malformations
- Loss-of-function mutation in TSGA10 causes acephalic spermatozoa phenotype in human
- Gout inheritance in an extended Chinese family analyzed by whole-exome sequencing: A case-report
- Identification of a novel compound heterozygous mutation in OTOG in a chinese family with severe hearing impairment
- Dynamics of severe acute respiratory syndrome coronavirus 2 genome variants in the feces during convalescence
- A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family
- Evaluation of the application value of bone marrow mesenchymal dtem cells osteogenic differentiation in new materials for bone regeneration
- Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function
- Mucinous carcinoma with micropapillary features is morphologically, clinically and genetically distinct from pure mucinous carcinoma of breast
- Genetic diagnosis history and osteoarticular phenotype of a nontransfusion secondary hemochromatosis
- Genomic and transcriptomic characterization of sporadic medullary thyroid carcinoma
- Cold-chain food contamination as the possible origin of COVID-19 resurgence in Beijing
- One-step nested RT-PCR for COVID-19 detection: A flexible, locally developed test for SARS-CoV2 nucleic acid detection
- PTEN status determines chemosensitivity to proteasome inhibition in cholangiocarcinoma
- Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis
- Deep sequencing shows that accumulation of potentially pathogenic mtDNA mutations rather than mtDNA copy numbers may be associated with early embryonic loss
- Four variants of SLCO2A1 identified in three Chinese patients with chronic enteropathy associated with the SLCO2A1 gene
- Parallel tests of whole exome sequencing and copy number variant sequencing increase the diagnosis yields of rare pediatric disorders
- Molecular profiling reveals common and specific development processes in different types of gynecologic cancers
- Wolbachia and Sirtuin-4 interaction is associated with alterations in host glucose metabolism and bacterial titer
- Unique dual indexing PCR reduces chimeric contamination and improves mutation detection in cell-free DNA of pregnant women
- Genomic surveillance of COVID-19 cases in Beijing
- A novel EMD mutation identified by whole-exome sequencing in twins with Emery–Dreifuss muscular dystrophy
- MINERVA: A facile strategy for SARS-CoV-2 whole-genome deep sequencing of clinical samples
- Authentication, characterization and contamination detection of cell lines, xenografts and organoids by barcode deep NGS sequencing
- Evaluation of the effects of sequence length and microsatellite instability on single-guide RNA activity and specificity
- Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next-generation sequencing.
- sRNAPrimerDB: comprehensive primer design and search web service for small non-coding RNAs
- MFEprimer-3.0: Quality control for PCR primers
- Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes
- A multiplex pharmacogenetics assay using the MinION nanopore sequencing device
- Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis
- De novo mutation of m.3243A>G together with m.16093T>C sssociated with stypical vlinical features in a pedigree with MIDD dyndrome
- A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency
- Identification and characterization of abundant repetitive sequences in Allium cepa
- Novel PITX2 mutations identified in Axenfeld–Rieger syndrome and the pattern of PITX2 ‐related tooth agenesis
- Development of a 40 linked autosomal STRs panel using massively parallel sequencing
- Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy
- Design of a targeted sequencing assay to detect rare mutations in circulating tumor DNA
- Comprehensive investigating of cytokine and receptor related genes variants in patients with chronic hepatitis B virus infection
- N-LyST: A simple and rapid screening test for Lynch syndrome
- Genetic landscape of papillary thyroid carcinoma in the Chinese population
- CirGRDB: A database for the genome-wide deciphering circadian genes and regulators
- TET1 modulates H4K16 acetylation by controlling auto-acetylation of hMOF to affect gene regulation and DNA repair function
- Acetylation of hMOF modulates H4K16ac to regulate DNA repair genes in response to oxidative stress
- CRISPR-offinder: a CRISPR guide RNA design and off-target searching tool for user-defined protospacer adjacent motif
- Comprehensive investigation of cytokine- and immune-related gene variants in HBV-associated hepatocellular carcinoma patients
- Population genomics reveals speciation and introgression between brown Norway rats and their sibling species
- Association of MTTP gene variants with pediatric NAFLD: A candidate-gene-based analysis of single nucleotide variations in obese children
- RBP-var: A database of functional variants involved in regulation mediated by RNA-binding proteins
- Lysosomal storage disease in the brain: Mutations of the β-mannosidase gene identified in autosomal dominant nystagmus
- Q-RRBS: A quantitative reduced representation bisulfite sequencing method for single-cell methylome analyses
- Selecting Specific PCR Primers with MFEprimer
- MBRidge: An accurate and cost-effective method for profiling DNA methylome at single-base resolution
- Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene
- A Bayesian Framework to Identify Methylcytosines from High-Throughput Bisulfite Sequencing Data
- Comparative RNA-seq analysis reveals potential mechanisms mediating the conversion to androgen independence in an LNCaP progression cell model
- Single-cell sequencing technologies: current and future
- Genome-wide identification and divergent transcriptional expression of StAR-related lipid transfer (START) genes in teleosts
- New mutation in the SOD1 (copper/zinc superoxide dismutase-1) gene in a Chinese amyotrophic lateral sclerosis (ALS) patient
- Identification of a novel missense mutation in angiogenin in a Chinese amyotrophic lateral sclerosis cohort
- MFEprimer-2.0: a fast thermodynamics-based program for checking PCR primer specificity
- Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility
- VizPrimer: A web server for visualized PCR primer design based on known gene structure
- Reliability analysis of the Ahringer Caenorhabditis elegans RNAi feeding library: a guide for genome-wide screens
- Evolutionary mode and functional divergence of vertebrate NMDA receptor subunit 2 genes
- MPprimer: a program for reliable multiplex PCR primer design
- MFEprimer: multiple factor evaluation of the specificity of PCR primers
- Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation
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