Exome Analysis

The OMRF Genomics facility is a universally accessible resource able to provide investigators with massive amounts of sequencing, genotyping, or gene expression data in a relatively short period of time. Our NovaSeq X Plus and NextSeq 2000 instruments combine to provide researchers extreme flexibility in a very cost-efficient manner.

We specialize in the services of DNA sequencing, genotyping, DNA library construction and aptamer development. Shotgun Library Sequencing, cDNA Library Sequencing, SAGE Library Sequencing, Whole Genome Sequencing and Primer Walking Sequencing. we offer high quality Re-sequencing & SNP Discovery Services. Quite a few of our staff scientists once participated in the International HapMap Project too.

extensive experience in whole genome shotgun sequencing services. Beginning from bacterial cells or genomic DNA, we provide you with accurate genome consensus sequences. We are also experienced in genome annotation and comparative genomics research. Notably our staff scientists have finished a number of whole microbial genome sequencing projects, such as the genomes of Pseudomonas bathycetes, Bacillus thuringiensis, Thermoanaerobacter tengcongensis, Streptococcus suis, and quite a few virus genomes. In addition, our in-house Laboratory Information Management System (LIMS) as well as manual basecalling ensures the highest service quality.

CD Genomics has been offering professional DNA library construction services for over 5 years. Hundreds of various cDNA libraries (such as standard cDNA library, large insert cDNA library, normalized cDNA library and subtracted cDNA library) and genomic DNA libraries (including short-insert plasmid shotgun library, large-insert plasmid shotgun library, whole genome shotgun library, Fosmid library, Cosmid library, MiniBAC and BAC library) have been constructed in our lab

CD Genomics has been dedicated to provide a full range of services to develop high quality customized aptamers for research, diagnostic and therapeutic applications. Services offered by CD Genomics include aptamer synthesis, aptamer generation, cell aptamer selection, aptamer design and modification, negative selection and so on.

Leveraging the expanding prospects of microbiome research, Leucine Rich Bion has integrated a robust computational pipeline "MetaRich" into a user-friendlyplatform for comprehensive analyses of any microbiome data.

After rigorous testing & validation of several leading microbiome analysis pipelines, tools & databases, we have compiled “MetaRich” to analyze both 16s rDNA & shotgun metagenomes, duly supplemented by our in-house computational tools. MetaRich will assist both researchers & industry personnel who are in pursuit of discovering biological insights within complex microbial systems & will ease the arduous task of large-scale microbiome data analysis.

DNA Link was founded in 2000. In the beginning, we offered genome analysis for Universities and Government Institutes supporting a lot of joint research projects. Later we became involved in larger research projects funded by the government and expanded our market to all research, Biotech, Pharmaceutical, foreign institutes and companies. Based on our 20 year-experiences, DNA Link provides options and services in Next generation sequencing, Genotyping, Microarray, Forensics and also personal genomics. Our expertise in research on SNP discovery has lead DNA Link to develop novel personal identification systems called AccuID. DNALink USA, Inc, is based in Los Angeles, CA

Lifecode Technologies is a Private Limited company incorporated in the year 2013 and backed by a bunch of passionate genomic scientists with the aim to offer reliable genomic solutions to improve lives. The company was formed to realize the passion of its founders to deliver reliable, scientifically backed , state-of-the-art and cost-effective diagnostic solutions to physicians and care-givers, and fill in the unmet gap in translation of genomic technologies from bench to bedside.

We provide advanced data analysis services encompassing a complete range of NGS applications, ranging from Exome/Whole Genome Sequencing, Denovo Assembly Transcriptome/RNAseq Analysis, ChIP-seq and Bisulfite-Seq/WGBS Analysis. We also deelop NGS based panels for Diagnostic Applications

At BioInfoRx, we help scientists obtain biological insights from complex genomic data. We provide complete NGS analytic solutions including standard analysis of raw data, integration between multiple experiments, and online database for data mining and visualizations. We use best-practice open source tools to analyze your raw NGS data, and provide meaningful annotations and downstream data mining tools to help you infer functional insights.

As demonstrated by the numerous publications using our services or web-bases tools, our biology-centric approach has proven effective to decipher molecular mechanisms from genomic data.

NGI is a platform for Next Generation Sequencing data analysis. We offer a wide range of bioinformatics tools and an experienced and professional collaboration service for any type of biological data analysis. We provide both standard and customized analysis, custom softwares and pipelines development and post-sequencing support. We'll enhance and make easier your discovery process.

Expertise:

Our expertise is in the epigenetics field in mouse and human organisms.

Infrastructure:

we will provide FTP access to our storage server to upload raw data and download analyzed data.

Bioinformatics solutions

ecSeq provides a variety of bioinformatics service packages suited for most everyday high-throughput sequencing experiments. We are particularly engaged in RNA-seq projects (trancriptomics, differential expression), ncRNA analysis (small RNA-seq, ncRNA annotation) and epigenome sequencing (bilsufilte and methylation analyses). Further bioinformatics solutions include SNP calling, variant annotation & prioritisation as well as development of customized algorithms.

Public workshops and eTrainings

We develop eTrainings and provide workshops for employee training in bioinformatics. Several times a year, we organize well-attended workshops on selected topics in next-generation sequencing data analysis. Test datasets are used for getting started in applying and developing bioinformatic tools.

Topics covered by our workshops include:

• RNA-seq bioinformatics
• Sequencing technolgies
• Small RNA-seq data analysis
• Genomic data visualization
• Perl for bioinformatics
• Programming in R

Expertise:

We have long experience in the development and application of bioinformatics methods to high-throughput sequencing experiments. These methods have been successfully applied in various experimental designs ranging from ncRNA and mRNA sequencing to genome/epigeome analyses. We have worked with sequencing data from humans, lifestock species (chicken, cow, turkey), plants and bacteria. Our employees are continuously involved in projects from national and international consortia, like the International Cancer Genome Consortium (ICGC) or the Leipzig Research Centre for Civilization Diseases (LIFE).

Infrastructure:

We have access to moderate computation resources allowing us to process ~120GB sequence data per week.

We offer a powerful genomics software platform that makes various bioinformatics tasks fairly straightforward to perform and deliver to customers. We also wrap this product with various service offerings for folks interested in one-off projects that deliver results rather than just subscribing to a software solution and then do the work themselves. We are comfortable with both scenarios. We are well versed in working with RNA-Seq, Genomes, Exomes, targeted panels, miRNA-Seq, Copy Number, Gene Expression, Protein Expression, and DNA Methylation from the level of raw sequencing reads or chip data all the way through to statistically-driven and knowledge-driven interpretations.

Expertise:

We are experienced in developing bioinformatics pipelines, providing data management solutions, analyzing the data using statistical methods and knowledge driven methods, and delivering professional-grade results. We are most familiar with human genomics projects, but have experience with other organisms as well. We are most focused on supporting sequencing projects, but are very capable of supporting array and PCR-based projects as well.

Infrastructure:

We leverage Amazon Web Services for most of our storage (EBS & S3) and computational resources (EC2). We are not frivolous about security, and we can provide you with security documentation to demonstrate how we leverage cloud resources while keeping best-in-class security. We also have powerful 16-core machines in our own private cloud that we leverage for service projects as well.

We provide NGS data analysis services using public domain tools as well as CLC bio workbenches. Our services include primary, secondary and tertiary data analysis of NGs data from all platforms. Data analysis steps include read QC check, Assembly and metrics, Annotation, Variant detection, and annotation and biological interpretations. We also enter in to joint projects as industry partners.

At NXT-Dx we can offer SE50, PE50 and PE100 sequencing on the Illumina HiSeq. On top of this we can also offer different sequencing settings on the Illumina MiSeq and shortly we will also be able to offer sequencing on the Illumina NextSeq.

We can offer sequencing of already prepared libraries but we can also offer full-scope projects whereby we receive cells, tissue, gDNA or RNA and take care of the sample preparation, library prep, sequencing and bio-informatics analysis.

We have worked with samples from all kind of species (mammalian, plant, bacterial) and all kind of cell types.

We pride ourselves in having close contact with our customers and only one single contact point. Also after the delivery of the data, we remain available to answer any questions customers might have on their data, their analysis, etc.

Beckman Coulter Genomics offers next generation sequencing services designed to meet the evolving sequencing needs of academic, biotechnology and pharmaceutical researchers worldwide. A comprehensive range of next generation sequencing services is available utilizing platforms from Illumina and Roche.

End to end solutions are offered allowing tailoring of projects to your specific needs. A wide variety of bioinformatics packages are available and results consultation is provided to ensure you understand the data returned to you. For the quickest service we accept pre-made libraries for sequencing only projects.

• Expert scientists consult on project design to ensure appropriate experimental approach • Beckman Coulter instrumentation utilized for fully automated library construction and target enrichment with enhanced reproducibility and reliability • Bioinformatics scientists oversee all data analysis to ensure quality
• Videoconference provided for report review and results discussion

Trusted Partner • Over 20 years sequencing experience • 1,500+ customer publications • 200+ successful audits • Experienced staff from well-known institutes of academic and commercial excellence • Contributed sequencing data to • >10 genome projects including mouse, cat, dog and salmon • >100 Microbial and Fungal genomes

HybridStat is a company bringing together a team of highly qualified and motivated scientists and developers, whose expertise spans a variety of statistics and computer science domains. Main HybridStat’s services are centered on bioinformatics, biostatistics and analytics of high-throughput data derived from modern biological technologies such as Next Generation Sequencing (NGS), DNA microarrays and Mass Spectrometry. In addition, HybridStat offers customized software solutions regarding the above.

Regarding NGS, HybridStat offers a variety of one-stop shop data analysis and analytics services, spanning from genome alignments and preprocessing of raw short read fragments, up to analytical and specialized reports and figures describing the results of various NGS protocols including RNA-Seq (quality control, differential expression and splicing analysis, biochemical pathway enrichments etc.), ChIP-Seq (data normalization and peak calling, gene-binding site associations, methylation profiles, motif finding etc.), Whole Exome and Whole Genome Sequencing (data preprocessing, variant calling, filtering, annotation and interpretation, etc.) and Single Cell Sequencing data analysis, using both open source and optimized proprietary pipelines.

HybridStat, can also offer complete support to your organization through its advanced Whole Exome Sequencing analytics platform Clingon (www.clingon-mds.com). Clingon is a complete, integrated one-stop clinical genomics and medical decision support platform which performs data analysis from raw data up to the generation of clinical reports. It uniquely integrates and curates a handful of resources regarding gene-disease and gene product-drug associations as well as curated variant annotation data towards more timely and accurate results and the optimal design of personalized treatment plans.

Our facility is unique because we offer the full range of NGS service from sample extraction through to data analysis. Sample extraction capabilities and expertise cover the entire spectrum of both environmental and clinical sample types.

Committed to making newer technologies attainable to modern researchers, abm offers a wide range of sequencing services on the advanced Illumina® sequencing platforms at accessible prices and rapid turnaround times. abm's premium NGS services will not only save valuable time and money, but also provide the most reliable and comprehensive solution for the project's needs.

Advantages of using our NGS services: -dedicated NGS specialists to help with experimental design and data analysis -customizable bioinformatics analysis to suit your project needs -strict quality control at multiple steps in library preparation and sequencing -RNA-seq, miRNA-seq, WGS, metagenomics, Amplicon-Seq and more!

What types of bioinformatics analysis will be done? If the reference genome is available (i.e. human or mouse), read mapping and alignment to the reference genome is included in the service. -Data is available in industry standard formats: FASTQ (default), SFF or BAM. Other formats available upon request (additional fees may apply). -RNA-seq includes: Read mapping and gene expression level estimation

Our data report files are provided in formats that can be viewed with any standard text viewers.

We offer user friendly sequencing services on HiSeq 2500 platform.

We always use only original kits and protocols and our sequencing platforms are maintained and updated promptly, that guarantees the highest quality of the data.

Professionally performed analysis of large scale sequencing data allows making breakthrough investigations, which previously required years of exhausting routine work. With over years of data analyzing experience we have matured team of experts in practical data processing which can find out as much useful information from original sequencing and genotyping data, as possible!

At Diploid, we turn NGS data into clinical reports or research reports, allowing hospitals, commercial labs and research institutes to outsource human genome interpretation.

Our focus is on 3 major areas: - Rare disease diagnostics - Carrier screening - Cancer

With high-quality diagnostics, fast turn-around times, secure infrastructure, and a personal approach, Diploid is rapidly becoming a trusted partner for genetic departments and commercial labs worldwide.

Over the past few months, we have been working for the following institutes and labs: - Oxford University Hospitals (UK) - University of Verona (Italy) - Otogenetics (US) - Macrogen (US) - King Faisal Specialist Hospital (KSA) - National Reference Lab (UAE)

iBinom is a cloud-based NGS data analysis service designed for clinical inherited disease diagnostics needs. We deliver ultrafast, accurate and easy-to-use genome analysis service for medical professionals around the world. Built-in raw data pre-processing ensures a high confidence output. Proprietary machine learning algorithms and sophisticated filtration system leads to ultimately precise interpretation results and reports a short-list of actionable variants. We support all popular data formats: fastq, fastq.gz, bam, vcf, vcf.gz We are platform-independent: Roche Junior, Roche 454, Illumina, Life Technologies

Established in 2014, CEN4GEN® Institute for Genomics and Molecular Diagnostics is a Canadian owned, award winning, licensed private corporation, which excels as a leader in providing diverse services for genomics applications: DNA testing / Genetic testing / Precision Medicine / Personalized Medicine / Preventive Medicine / Genome Medicine. Our distinguished team comprises of highly qualified clinicians, medical scientists, scientists, customer support personnel, product manufacturing and quality control personnel who are experienced in the services and products that we provide. CEN4GEN is proud to provide its cutting edge services so far to clients in Canada, as well as overseas countries in North America, Central America, South America, the Caribbean, Africa, Asia, Europe and the Oceania (specifically Australia and New Zealand). Our clients are from hospitals, universities, clinics, government agencies, commercial entities and private individuals.

CEN4GEN® is committed to providing you with outstanding quality, vital, cost-effective, comprehensive and cutting-edge services using leading-edge technologies.

We offer tailored bioinformatics services (mainly NGS data analysis) to academic and private organizations. We have a strong academic background with a focus on cutting edge, open source software.

We build up your in house bioinformatics capacity in 2 ways: First, we provide you with the code underlying the analysis you requested. Second, we can help you to set up (cloud) computing solutions that will allow you to run and extend your analyses independently.

We replicate recommended analysis pipelines (best practice) or develop novel ones but we always emphasize biological interpretation of your data.

Parseq Lab is experienced in: - massively parallel sequencing data analysis - client-tailored algorithms and software development - analysis pipelines deployment

We offer: - whole genome/exome and targeted sequencing data analysis - de novo assembly - SGV detection and annotation - expression analyses - metagenomics analysis - transcriptomics analysis - proteomics research - genuine task-specific workflows design - custom bioinformatics applications development - statistical data analysis

Collaborations: genomic research labs, sequencing facilities, academic and research institutions.

Quick Biology Inc. is a CLIA-certified and CAP-certified startup biotechnology company located in Monrovia, CA. QB has a fully automated, high-throughput genomic center equipped with all major next-generation sequencing. QB provides state-of-the-art genomics technologies, comprehensive services, and specialized expertise to enable our services in a cost-effective and timely manner to serve basic science and translational/clinical research.

We also help physicians to unleash the power of NGS in disease diagnosis. (U.S. Federal CLIA#: 05D2286116; California State CLIA ID: CLF-90009922) (U.S. Federal CAP#: 9665242)

★We are equipped with the latest Illumina NovaSeq X Plus, NovaSeq 6000, HiSeq X Ten, HiSeq 4000, NextSeq500, MiSeq and Ion Proton.

We have --High sequencing throughput and capacity (NovaSeq 6000 S2 flow cell, ~3300M reads of PE150) --Fast turnaround time (our NovaSeq runs once a week and Hiseq X runs twice a week on a routine basis) --Very competitive price in RNA-seq and Whole Exome Seq --Advanced bioinformatic analysis, including analysis for RNA splicing/RNA editing -- High-quality pictures for publication purposes

★We also provide functional genomic screening service using our proprietary Drug Array and siRNA Array to conduct functional studies on your pathway of interest through drug-drug and drug-gene interactions on your cell line of interest. (1) Drug Array: - This Drug Array comprises 66 highly selective anti-cancer drugs, which allows users to quickly screen potential drug-drug and drug-gene interactions. It serves as a great tool to survey synthetic lethality for cancer treatment. It also serves as a tool to probe pathway-pathway interactions. (2) siRNA Array - siRNA array for Drug Targets: This array set silences 60 well-known drug targets, which allows users to screen potential gene-gene and gene-drug interaction. - siRNA array for Cancer Driver Genes: This array set silences 60 well-known cancer driver genes.

Admera Health is an advanced molecular diagnostics and research service provider. Utilizing genomic and proteomic technology platforms (such as next generation sequencing and aptamer), together with advanced bioinformatics, Biopharma Services of Admera Health seeks to redefine the delivery of transformative, valuable solutions for all researchers and biopharma companies.

Biopharma Services of Admera Health operates in a CLIA-certified and CAP-accredited laboratory for the development, validation, and delivery of proprietary laboratory developed tests (LDTs) as well as RUO (Research Use Only) services. We are committed to maintaining compliance with all clinical regulations and to upholding the highest quality standards for all our projects.

Please follow the link for more information: https://www.admerahealth.com/genomics-and-bioinformatics-2/

Genotypic Technology is the first genomics company based in India with a state-of-the-art, ISO 9001:2008 accredited, SAP-enabled, 12,000 square feet facility in Bangalore. Our high-throughput facility enables us to offer customized services for experiment design consultation, protocol optimization, microarray and probe designing, next-generation sequencing (NGS), and bioinformatics solutions to clients from academia, biotech, and pharma sectors worldwide.

We have been providing high-quality sequencing services, including whole-genome sequencing (WGS), transcriptome sequencing, shotgun metagenome sequencing, and de-novo assembly since 2000. Our skilled team has experience in working with genomes of all sizes and nucleic acids from various sources on Illumina, Oxford Nanopore, and other platforms. We have developed targeted panels for various viruses like Adenovirus, KFDV, SARS-CoV-2, Dengue, and pipelines for predicting virulent strains that may be difficult to treat with conventional antibiotics.

Our broad range of metagenome services includes targeted and whole-genome metagenome and metatranscriptome sequencing. Our long amplicon metagenome approach provides the best resolution of microbes up to the sub-species level, while whole-genome metagenome sequencing enables the identification of gene clusters, resistome, and novel pathways in a given environment. We also specialize in Ribo-footprinting and RNA immunoprecipitation sequencing, ChIP sequencing, and targeted methylation sequencing.

TACGenomics has a team composed of bioinformatician, molecular biologist and computer scientist who are all at Ph.D. level. Our team has the experience of hundreds of NGS data analysis projects from all over the world. The mission of TACGenomics is to help our customer to solve the biological questions. After computation analysis completed by the bioinformatician, our molecular biologist will interpret the analyzed data carefully, provide more insight into your project and help the publication of the project in the high impact journal.

ContigExpress is the leading integrated genomics data service provider. We offer genomic project management, data analysis, and bio-IT consulting services. Our unique value to our clients lies in our deep understanding of both biology and informatics. From project consultation, bio-IT infrastructure implementation, to data analysis, our experienced scientists deliver not only cost-effective customized informatic solutions but also their expert insights.

Our team consists of Ph.D.-level computational biologists with extensive training and professional practice in bioinformatics and genomic research. We understand both your cutting-edge research and your informatics challenges. We enable you and your team to extract actionable information from the vast amount of genomic data in a cost-effective and timely fashion.

We at ContigExpress strive to deliver affordable expert genomic data solutions to researchers and clinicians. We place the utmost emphasis on information confidentiality, data security, and data integrity. Please schedule a complimentary project discussion with one of our expert bioinformaticians to discover how we can help you move your genomics research forward!

TAGCC is an African company offering services in next generation sequence data analysis and consultancy in genomics. We have implemented a wide range of pipelines to analyse NGS data from various platforms including Illumina and 454. We support design and implementation of genomics and NGS based projects.

Strand Life Sciences is a technology innovation company that has pioneered the practice of scientific intelligence in health sciences. Strand was established in 2000, with a founding theme “Algorithms for Life”. The company is an academic-spin of in India, founded by four Computer Scientists - Dr. Vijay Chandru, Dr. Ramesh Hariharan, Dr.V. Vinay, and Dr. Swamy Manohar. Since then, we have established a strong portfolio of products for biological systems research and for diagnosis and treatment of diseases. Over 2000 scientific laboratories and 100 hospitals across the world are our clients. Now, we have entered a new era guiding medical decisions using molecular insights with a new theme ‘New Generation Healthcare’.

Strand NGS-Formerly Avadis® NGS is Strand’s flagship product for analysis, management and visualization of next-generation sequencing data. It supports extensive workflows for alignment, RNA-Seq, small RNA-Seq, DNA-Seq, ChIP-Seq, MeDIP-Seq and Methyl-Seq experiments. We provide bioinformatics services using Strand NGS and price is dependent on man hours, number of samples and other factors. Please consult us for more details sales@strandngs.com

CCCB has strong experiences in perform and analyze extracellular sRNASeq in addition to the standard mRNASeq, sRNASeq, and ExomeSeq. CCCB also offers comprehensive analytical consulting, project planning, and genomic data visualization tools such as WebMeV (http://mev.tm4.org) to allow researchers with no informatics backing to receive fully analyzed NGS data.

MedGenome has a next generation sequencing lab based in South San Francisco housing Illumina's NovaSeq 6000, NovaSeq X+, MiSeq and PacBio Revio machines. We specialize in end to end Genomic Services including: DNA/RNA extraction, library prep, sequencing, standard analysis, and advanced analysis.

We offer whole genome, whole exome, RNA sequencing (including low input options), TCR seq (alpha/beta, gamma/delta, FFPE), BCR and 10x Genomics single cell sequencing, 10x Visium Spatial and Olink proteomic services.

We also help labs sequence their pre-made libraries.

We support analysis for all our services as needed.

We offer computational analyses of Next-Generation Sequencing data (Illumina and Ion Torrent platforms), including RNA-seq, small RNA-seq, DNA-seq, Bisulfite-seq and ChIP-seq. Our bioinformatics support can be fully customized for your research needs, the scope and objectives of the study. We apply only up-to-data well-proven software and pipelines working under Unix/Linux environment. Optionally, our experts can help to interpret the obtained results from the scientific point of view, provided some of them are working in a close research field.

At the forefront of scientific advancement, our sequencing and biorepository facility is part of the One Health Shared Services at Innovation Foundation dedicated to enhancing the health and well-being of humans, animals, and ecosystems.

Our mission: To advance health across boundaries.

Sequencing platforms: NextSeq2000: Versatile Illumina platform for flexibility and speed. MiniSeq: Compact and cost-effective, suitable for targeted sequencing and small-scale applications.

We offer cutting-edge genomic research services & Bioinformatics support. Bioinformatics Support: Our bioinformatics experts collaborate closely with you.

Why Choose Us? Accuracy: Our cutting-edge technology ensures reliable results. Fast Turnaround: Get your data quickly without compromising quality. Expert Support: Our scientists are here to assist you. Custom Solutions: Tailored services to meet your specific research goals. End-to-end solutions: From experimental design to data analysis, we guide you every step of the way.

Contact Us at OHIL@okstate.edu to discuss your sequencing needs or possible collaborations with the One Health Innovation Lab.

Dreamgenics is a biotech company that offers bioinformatics analysis services for genomic, transcriptomic and metagenomic NGS data using our Genome One software. Genome One (CE-IVD certified) is an advanced tool that allows the integration of all the bioinformatics solutions required for the study, including read alignment, variant calling and annotation. Our analyses identify high-quality genomic variants through high sensitivity and specificity standards, extracting important biological information and reducing validation costs. The services that we offer are the following: WGS, WES, Gene panels, Transcriptomics (RNA-Seq) and Metagenomics. Additionally, we hand in the results using our web viewer Genome One Reports (https://www.dreamgenics.com/en/genome-one/).

The use of our bioinformatics tools allows us to offer you high-quality results in a fast and simple way. By using our analysis services, you considerably reduce costs and the investment in technological devices, informatics and qualified professionals.

Lastly, we are an ISO 9001:2015, UNE-EN ISO 13485:2018 and UNE-ISO/IEC 27001:2017 certified company which represents our commitment to provide our customers with products and services that meet the most demanding quality standards.

CCG has developed precision oncology solutions for robust genomic data analysis.

Our OncOS platform offers data analysis in a rapid, scalable and secure manner. It provides comprehensive tumour profiling and reports actionable molecular insights to enable the delivery of a personalised treatment strategy for each patient.

Ultimately, we will ensure that each patient has the right treatment, at the right time, to beat their cancer.

• Variant calling
• Variant alignment
• SNVs
• MSI
• TMB
• CNVs
• INDELs
• Drug matching
• Clinical trial matching

We offer a solid bioinformatics foundation for laboratories that want to start or scale their capacity to perform genetic testing while following the best practices from ACMG, AMP and CAP.

End-to-end and automated processing Evaluation of quality parameters, mapping, multiple variant callers, database annotation and automatic pre-classification according to ACMG and AMP guidelines.

Support for clinical interpretation More than 200 genetic mutations databases are incorporated, including data for germline, somatic and structural variants (CNV and Fusion).

Robust filters Filtering engine based on all annotated mutation data, including human phenotypes, the patient's clinical history and diseases (OMIM / UniProt).

Clear and structured results Relevant clinical information to support the medical report, such as patient, variants and therapies info. We provide a Datavis feature to share results with partners.

EarlyDx is committed to providing cutting-edge non-invasive genomics technologies and best-in-class early disease diagnostics. Our proprietary cfDNA-based technologies, in combination with powerful AI algorithms, have shown great potential to transform non-invasive biomarker discovery, diagnostics, and precision medicine for almost any diseases, including cancers, aging, metabolic diseases, autoimmune diseases, imprinting diseases, and neurological diseases.

Our key cfDNA-based best-in-class technologies include:

1. cfMethyl-seq: a powerful and cost-effective NGS solution to profile the cfDNA methylome
2. cfSNV: a cutting-edge computational tool to accurately call mutations directly from blood
3. cfTrack: for non-invasive monitoring of cancer MRD, recurrence, and evolution
4. EarlyDx-Cloud: a comprehensive bioinformatics data analysis platform for liquid biopsy

Please check out our relevant publications in details: https://earlydx.com/technologies/publications/

• End-to-end diagnostics services featuring whole genome sequencing - for clinical applications of cancer, rare disease and MRD. Below are the listed applications for research:

Biopharmaceuticals and biotechnology --- Identify candidate biomarkers that correlate with outcomes Understand responders vs. non-responders during or post clinical trials Accelerate clinical trial enrollment by identifying patients for rare indications Analyze clinical trial results for efficiency and safety profile Leverage genetic information for label expansion with real world data Provide genetic testing for patient support program

Biobanks, research organizations and labs --- Research genomic profiles in-depth, often resulting in new biomarker identification, or re-classification Profile genomic characteristics of the acquired biospecimen to increase the value of your biospecimen assets

Health technology --- Leverage genetic information to provide precision health insights to your customers and users Generate real world evidence data including genetic information