Blended Genome-Exome Sequencing is now available for clinical applications! Visit our Clinical BGE page.
Menu
Blended Genome-Exome Sequencing is now available for clinical applications! Visit our Clinical BGE page.
Our rapid “Walk-Up Sequencing” (WUS) service generates and delivers data from your sequencing-ready libraries and library pools.
Please note: if pooling is needed, libraries must be pooled by the customer prior to receipt at Broad Clinical Labs.
The newest of the Illumina® fleet, the NovaSeq X series includes the NovaSeq X Plus 10B and the NovaSeq X Plus 25B. With faster run times, higher outputs, increased reads per run, and new reagent methodologies, the new X Series produces cost-effective, fast sequencing with deeper coverage. NovaSeq X Plus Series offers the flexibility to submit multiple pooled libraries to run within one flowcell, or alternatively to run one library on multiple lanes in a flowcell to yield the maximum amount of coverage per library. These extremely cost-effective machines are best suited for large scale applications with a 300 cycle modality (2x150bp) for studies such as high volume whole genome, whole exome, or whole transcriptome sequencing.
Producing ≥5 million reads per flowcell, the MiSeq is recommended for small whole genome sequencing (microbe, virus), targeted gene sequencing (amplicon-based or gene panels), and 16S metagenomic sequencing, but can also be used for targeted gene expression profiling, microRNA and small RNA sequencing, and DNA-protein interaction (ChIP-Seq).
Producing ≥320 million reads per flowcell, the NextSeq 500 is recommended for low scale or small whole genome sequencing, targeted sequencing (amplicon or panel-based sequencing), and higher throughput transcriptome sequencing such as total RNA-Seq, mRNA-Seq and gene expression profiling. It is also suitable for exome sequencing, ChIP-Seq, methylation sequencing, metagenomics including 16S, and transcriptome sequencing for single-cell profiling, targeted gene expression studies, and miRNA and small RNA sequencing.
Producing ≥800 million reads per flowcell on the NextSeq 2000 P3 flowcell (≥320M for P2), the faster turnaround time of this mid-throughput technology is suitable for a wide variety of studies including: low-throughput whole genome, exome, and transcriptome sequencing; targeted applications such as amplicon sequencing or gene panels of various sizes; a wide variety of transcriptome applications including both single-cell and bulk transcriptome studies; microbiome studies that may need metagenomic, metatranscriptomic, or 16S profiling.
With a wide variety of modalities (see below), the NovaSeq 6000 Series offers high-throughput processing that generates consistent data at scale for a variety of studies. With variable loading per lane, the NovaSeq 6000 Series offers the flexibility to submit multiple pooled libraries to run within one flowcell, or alternatively to run one library on multiple lanes in a flowcell to yield the maximum amount of coverage per library. These machines are typically utilized for high-throughput studies such as large scale whole genome, whole exome, or whole transcriptome sequencing.
With independent dual flowcells and the flexibility of 150 or 300 cycle runs, the Element AVITI™ System utilizes a novel rolling circle amplification technology to reduce PCR error propagation, AT/GC bias, and provide accurate sequencing data for a wide variety of applications. With typical runs yielding ~600GB of data, this mid-throughput machine is suitable for a variety of cost-effective studies such as exome, low-pass genome, and bulk and single-cell RNA sequencing. Compatible with linear libraries generated for Illumina® machines, the Element Adept Library Compatibility Workflow can adapt libraries prepared with third-party kits for use on the Element AVITI™ System, producing circularized libraries in <2 hours.
The UG 100™ from Ultima Genomics is a cost-competitive, high-throughput sequencing alternative. Adopting open silicon wafers as the sequencing substrate, the flow-based sequencing technology can run numerous wafers in succession without user intervention and yields 7B Reads in under 24 hours. The technology is single-ended with sequencing runs up to ~315bp reads. Cost saving advantages come from both the silicon wafer technology and cheaper oligonucleotide manufacturing. The UG 100™ is suitable for large scale projects of whole genome sequencing, whole exome sequencing, CRISPR/Perturb-seq, and single cell RNA sample types, but is flexible and fast enough to enable small-batch sequencing projects.
See Walk-up Sequencing data sheet for more information.
| Technology | Minimum order | Minimum library volume | Minimum library concentration | Deliverable |
|---|---|---|---|---|
| Illumina® MiSeq, NextSeq 500, NextSeq 2000 | Flowcell | 20 μL | 2 nM | FASTQ or BCL file |
| Illumina® NovaSeq 6000 (multiple flowcell types) | Flowcell | 140 μL for S4 flowcell; 70 μL for other flowcell types | 2 nM | FASTQ or BCL file |
| Illumina® NovaSeq X Plus | Flowcell | 10B: 200 μL 25B: 400 μL | 2 nM | FASTQ or BCL file |
| PacBio Revio™ | SMRT™ Cell | 30 μL | 20—60 ng/μL (Concentration varies based on library fragment size) | Circular consensus error corrected, aggregated, and aligned output file |
| Element AVITI™ | Flowcell | 70 μL | 6 nM | FASTQ files |
| Ultima Genomics UG 100™ | Wafer | 125 μL | 5 nM | CRAM files |
Illumina® (short read)
PacBio (long read)
Element (short read)
Ultima (short read)
Outputs:
De-multiplexed FASTQs
or BCLs
To get started with our Walk-Up Sequencing service for customer-prepared libraries, please fill out one of the following forms and a project manager will contact you within 1 business day.
Do you know which sequencing technology and cycle count you need for your project? Click below to get your order started.
Do you need assistance with selecting a sequencing technology and cycle count for your project? Click below to request a consultation.
Are you looking for end-to-end sample preparation and sequencing services?
Copyright © 2023 Broad Institute. All Rights Reserved. Privacy Policy | Terms & Conditions
Chief of Clinical Strategy and Product Development, Broad Clinical Labs
Sean Hofherr is dual board certified by ABMGG in Clinical Biochemical Genetics and Clinical Molecular Genetics. Sean serves as the Chief of Clinical Strategy and Product Development at Broad Clinical Labs. In this role at BCL, Sean is able to leverage his extensive experience to guide the clinical vision and delivery across the organization. Sean most recently served as the Chief Operating Office at Fabric Genomics, which focuses on the use of AI and Bioinformatics for Clinical Interpretation of whole genome sequencing. Prior to Fabric, Sean was the Chief Scientific Officer and CLIA Director at the commercial reference laboratory, GeneDx.
Sean received his B.S. degree in Microbiology and Cell Sciences from the University of Florida before earning his Ph.D. in Molecular and Human Genetics from Baylor College of Medicine. Sean completed clinical fellowships in Clinical Biochemical Genetics and Clinical Molecular Genetics at the Mayo Clinic.
Chief of Staff, Broad Clinical Labs
As Broad Clinical Labs’ Chief of Staff, Danielle Perrin advises and supports colleagues on the executive leadership team in BCL’s strategic planning and execution. She builds and leads new organizational functions and processes and leads critical projects, as well as driving effective information flow, decision making, and execution throughout the organization. An operations leader with a business, engineering, and biology background and 20+ years of experience in the genomics field, Perrin has a track record of driving operational excellence and building and scaling both physical and business processes. During her career at Broad, which started in 2003 at the tail end of the Human Genome Project, Perrin has led laboratory operations and R&D teams in Broad’s Genomics Platform, as well as fulfilling senior advisory and leadership roles in the Broad Institute’s COO and CFO offices.
Perrin received her B.S. in Biology and M.E. in Biotechnology Engineering from Tufts University and her M.B.A. from the MIT Sloan School of Management.
Chief Commercial Officer, Broad Clinical Labs
As Chief Commercial Officer of Broad Clinical Labs, Tim De Smet leads BCL’s business development, alliance management, external project management, and customer support teams. A Broad Institute employee since 2008, De Smet has held leadership roles and managed teams of various sizes in Broad’s Genomics Platform and clinical lab, spanning laboratory operations, finance, and informatics, and has expertise in work design, financial modeling, and high scale laboratory and business operations.
De Smet received his B.S. in Biochemistry and M.B.A. from Northeastern University.
Chief Technology Officer, Broad Clinical Labs
As Chief Technology Officer, Jim Meldrim sets the vision for Broad Clinical Labs’ informatics systems, including the hardware and software used for sample intake and tracking, data production, analysis, and delivery. Having held a variety of laboratory and informatics-focused leadership roles at Broad, spanning R&D and production operations, Meldrim has been a leader and innovator in the generation, management, and analysis of genomic data since 1999, beginning with sequencing data generation for the Human Genome Project.
Meldrim received his B.S. in Biology from Cornell University.
Chief Operating Officer, Broad Clinical Labs
As Chief Operating Officer, Sheila Dodge leads Broad Clinical Labs’ process development and implementation activities, as well as lab operations, financial planning and operations, quality & compliance, and core business processes. A Six Sigma Black Belt with extensive experience in process development and high throughput genomics operations, Dodge is an expert in work design and in collaborating with a range of collaborators, scientists, engineers, and technology partners to rapidly integrate new technologies and operationalize innovations. A member of the Broad Institute since 2001, Dodge is an Institute Scientist and lectures at the MIT Sloan School of Management on operations, dynamic work design, and visual management techniques.
Dodge received her B.A. in biochemistry and molecular biology from Boston University and her master’s degree in biology from Harvard University. She earned her M.B.A. from MIT Sloan School of Management.
Chief Medical Officer and Clinical Laboratory Director, Broad Clinical Labs
Heidi Rehm is board-certified by ABMGG in Clinical Molecular Genetics and Genomics and serves as BCL’s Chief Medical Officer and Clinical Laboratory Director. She oversees BCL’s regulatory requirements, leads the clinical team performing genomic interpretation and variant analysis, and guides BCL’s efforts in genomic testing for clinical and research use. She is also an Institute Member of the Broad and co-director of the Medical and Population Genetics Program. Rehm is also the Chief Genomics Officer in the Department of Medicine and Genomic Medicine Unit Director at the Center for Genomic Medicine at Massachusetts General Hospital, working to integrate genomics into medical practice. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. She co-leads both the Broad Center for Mendelian Genomics, focused on discovering novel rare disease genes, and the Matchmaker Exchange, which aids in gene discovery. She is Chair of the Global Alliance for Genomics and Health, a principal investigator of the Broad-LMM-Color All of Us Genome Center, co-leader of the Genome Aggregation Database (gnomAD), and a Board Member and Vice President of Laboratory Genetics for the American College of Medical Genetics and Genomics.
Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.
Chair and Chief Scientific Officer, Broad Clinical Labs
As Chair and Chief Scientific Officer of Broad Clinical Labs, Niall Lennon leads the team and sets the scientific and clinical vision for the organization. Dr. Lennon joined the Broad Institute in 2006 and has since contributed to the development of applications for every major massively parallel sequencing platform across a range of fields. In 2013 Dr. Lennon led the effort to establish a CLIA licensed, CAP-accredited clinical laboratory at the Broad Institute to facilitate return of results to patients and to support clinical trials. More recently, he has led efforts to achieve FDA approval for large-scale genomics projects (NIH’s All of Us Research Program) and for Broad’s own clinical diagnostic for COVID-19 testing operation, which returned 37+ million results to patients. Dr. Lennon is a principal investigator of the eMerge and All of Us projects, an Institute Scientist at Broad, Associate Director of Broad’s Gerstner Center for Cancer Diagnostics, and an adjunct professor of biomedical engineering at Tufts University, where he teaches Molecular Biotechnology.
Dr. Lennon received a Ph.D. in pharmacology from University College Dublin and completed his postdoctoral studies at Harvard Medical School and Massachusetts General Hospital. He holds an executive certificate in management from the MIT Sloan School of Management.