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Overview
Molecular Genomic approaches to intellectual and developmental disabilities have become increasingly important in understanding the underlying basis of these disabilities and how one might approach therapy. The IDDRC Gene Analysis Group, sponsored by the Boston Children’s Hospital Intellectual and Developmental Disabilities Research Center grant, has centralized these capabilities into one convenient location that offers these genomic services to IDDRC investigators at Boston Children’s Hospital at a reduced rate. These services are offered at both the start and end of an investigators study in a user-friendly manner, with an emphasis on timeliness, efficiency, and cost-effectiveness.
Cite the Core
Please cite the Molecular Genetics Core in your publications in the following way:
We thank the IDDRC Molecular Genetics Core, funded by NIH P50 HD105351.
Contact Us
New Service Announcement
NANOPORE SEQUENCING
Nanopore sequencing is now available as a full-service option at the IDDRC’s Gene Analysis and Editing Core. With the advanced capabilities of Oxford Nanopore Technologies’ PromethION 24 we now offer rapid, long-read sequencing for a broad range of ‘omics applications. Learn more here
Contact us today!
Catherine Brownstein, MPH, PhD Email >
How we can help with your research
The Core laboratory is dedicated to the following specific aims:
Aim 1:
Provision of general design, implantation, and interpretation of IDDRC studies. IDDRC investigators utilize the expertise of the Core Director, Manager or specific technical staff in the design, implementation and interpretation of their IDDRC studies. Most IDDRC investigators will have some idea on approaches available in the genomic space but the staff of the facility can and will provide a much broader base of knowledge to move the research efforts forward.
Aim 2:
Obtaining the best available price, quality, and turnaround time for Next Generation Sequencing (NGS) for the study of IDD/Neurodevelopment. The Molecular Genetics Core provides IDDRC investigators state-of-the-art sequencing of both DNA and RNA, including inhouse Sanger sequencing and cost effective send-out of Next Generation Sequencing, recognizing the inability of a small core laboratory to be more cost effective than larger genome centers or commercial vendors. IDDRC investigators will benefit from personal service offered by the core and these sequencing services will strengthen their research.
Aim 3:
Producing high quality Array and other Services on demand. While RNASeq is becoming the preferred method of transcriptome profiling, array services are still quite popular. In addition to NGS expertise, the Molecular Genetics Core provides array based expression studies on both Illumina and Affymetrix platforms. The staff gives advice on the platform to use as well as whether arrays will fill their needs over the RNASeq approaches offered in Aim 1. There is also a need to have centralized access to state of the art PCR. The Molecular Genetics Core provides SNP based Fluidigm and ddPCR approaches for IDDRC investigators.
Aim 4:
Training and intellectual development for our researchers and clinicians. The core nurtures the collaboration and training of IDDRC investigators and their staff on the latest techniques and approaches to intellectual and developmental disabilities to move forward the understanding of their underlying basis.
Aim 5:
Assisting in collaborations within and outside Boston Children’s and the IDDRC.
Gene Analysis Group Services, Instruments, & Fees
- Nucleic Acid Sample Preparation & Quality Control
- Analytical DNA Testing
- Gene Expression Quantification
| Instrument | IDDRC | BCH | External Academic | Industry |
| Agilent 2100 Bioanalyzer Learn More > | ||||
| High Sensitivity DNA–per chip | $80.00 | $88.00 | $100.00 | $130.00 |
| High Sensitivity DNA–per sample | $8.00 | $9.50 | $11.00 | $13.00 |
| Nano–per chip | $75.00 | $85.00 | $95.00 | $110.00 |
| Nano–per sample | $6.50 | $7.50 | $9.00 | $11.00 |
| Pico–per chip | $75.00 | $85.00 | $95.00 | $110.00 |
| Pico–per sample | $6.50 | $7.50 | $9.00 | $11.00 |
| DNA 1000–per chip | $75.00 | $85.00 | $95.00 | $110.00 |
| DNA 1000–per sample | $7.50 | $9.50 | $11.00 | $13.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Agilent 4200 TapeStation Learn More > | ||||
| Coming Soon! | Contact | Contact | Contact | Contact |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Hamilton Microlab STARlet Automated Workstation | ||||
| Self Service | Contact | Contact | Contact | Contact |
| Instrument | IDDRC | BCH | External Academic | Industry |
| ThermoFisher Nanodrop 1000 Spectrophotometer | ||||
| Self Service | Contact | Contact | Contact | Contact |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Qiagen QIACube DNA Purification System Learn More > | ||||
| DNA Investigator Kit–per sample | $15.00 | $16.00 | $17.00 | $19.00 |
| DNeasy Blood and Tissue–per sample | $13.00 | $14.00 | $15.00 | $17.00 |
| RNeasy Plus Minikit–per sample | $17.00 | $18.00 | $19.00 | $21.00 |
| RNeasy Lipid Tissue Minikit–per sample | $29.00 | $31.00 | $33.00 | $37.00 |
| GeneRead Pure mRNA Kit–per sample, customer provides kit | $9.00 | $10.00 | $11.00 | $13.00 |
| Self Serve Extractions–per run | $20.00 | $22.00 | $25.00 | $30.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Qubit Flex Fluorometer | ||||
| Contact | Contact | Contact | Contact | |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Affymetrix Gene Chip Scanner 3000 with Autoloader Learn More > | ||||
| Hybridization Only (samples already labeled) – per sample | $165.00 | $174.00 | $183.00 | $202.00 |
| Full Service (customer supplied arrays and amplification kits) –per sample | $253.00 | $266.00 | $280.00 | $308.00 |
| miRNA (customer supplied arrays and amplification kits) –per sample | $183.00 | $193.00 | $203.00 | $224.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Agilent SureScan Array System Learn More > | ||||
| Full Service (arrays and reagents included)–per sample | $466.00 | $490.00 | $515.00 | $567.00 |
| Scanner Use Only–per run | $50.00 | $55.00 | $60.00 | $65.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Bionano Saphyr Genomic Mapping System Learn More > | ||||
| Full Service Blood and Cells (chip and reagents included)–per sample | $1510.00 | $1586.00 | $1666.00 | $1833.00 |
| Bone Marrow Aspirate (chip and reagents included)–per sample | $1544.00 | $1622.00 | $1704.00 | $1875.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Bio-Rad CFX96 Touch Real-Time PCR Detection Learn More > | ||||
| Self Service (customer supplies all materials)–per run | $30.00 | $35.00 | $40.00 | $50.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Bio-Rad CFX384 Touch Real-Time PCR Detection Learn More > | ||||
| Self Service (customer supplies all materials)–per run | $30.00 | $35.00 | $40.00 | $50.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Bio-Rad droplet digital PCR QX200 Learn More > | ||||
| Auto Droplet Generation | $30.00 | $32.00 | $34.00 | $38.00 |
| Full Service (includes all reagents/supplies needed except assays and restriction enzymes) | $89.00 | $94.00 | $120.00 | $120.00 |
| Self Service ( user provides all reagents except running oils, cartridges, tips, plates) | $60.00 | $68.00 | $104.00 | $104.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Fluidigm Biomark Microfluidic Real-time PCR Detection System Learn More > | ||||
| Taqman/SNPtype Genotyping 48.48 -per chip | $675.00 | $709.00 | $745.00 | $820.00 |
| Taqman/SNPtype Genotyping 96.96 – per chip | $1371.00 | $1440.00 | $1512.00 | $1644.00 |
| Taqman/SNPtype Genotyping 192.24 -per chip | $924.00 | $971.00 | $1,020.00 | $1,122.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| 10X Genomics Chromium Controller Learn More > | ||||
| Coming Soon! | ||||
| Instrument | IDDRC | BCH | External Academic | Industry |
| Hamilton Microlab STARlet Automated Workstation | ||||
| Self Service | Contact | Contact | Contact | Contact |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Illumina NextSeq 500 Learn More > | ||||
| Self Service (requires contract, please inquire)- per run | $50.00 | $50.00 | – | – |
| Full Service – customer supplied chip and reagents | Contact | Contact | Contact | Contact |
| Instrument | IDDRC | BCH | External Academic | Industry |
| SeqStudio Genetic Analyzers (x2) Learn More > | ||||
| Sanger Sequencing | ||||
| Individual Sequencing Reactions | $4.60 | $4.90 | $5.20 | $5.80 |
| Individual Sequencing Reactions w/purification | $5.40 | $5.70 | $6.00 | $6.60 |
| Hairpins/GC- Rich -per sample | $17.00 | $17.90 | $18.80 | $20.70 |
| Full Service* (primer design, PCR, QC, Sanger Sequencing) – per sample | $121.00 | $128.00 | $135.00 | $149.00 |
| Full Plate (Seq) | $396.00 | $416.00 | $437.00 | $481.00 |
| Full Plate (PCR + Pur + Seq) | $550.00 | $578.00 | $607.00 | $668.00 |
| Full Plate (Pur + Seq) | $463.00 | $457.00 | $512.00 | $564.00 |
| Microsatellite | ||||
| Pre-run Half Plate (post PCR) | $94.00 | $99.00 | $104.00 | $115.00 |
| Pre-Run 96- Well Plate(post PCR) | $169.00 | $178.00 | $187.00 | $206.00 |
| PCR for Microsatellite –per sample | $2.60 | $2.80 | $3.00 | $3.30 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Affymetrix Gene Chip Scanner 3000 with Autoloader | ||||
| Hybridization Only (samples already labeled) – per sample | $165.00 | $174.00 | $183.00 | $202.00 |
| Full Service (customer supplied arrays and amplification kits) –per sample | $253.00 | $266.00 | $280.00 | $308.00 |
| miRNA (customer supplied arrays and amplification kits) –per sample | $183.00 | $193.00 | $203.00 | $224.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Bio-Rad CFX96 Touch Real-Time PCR Detection | ||||
| Self Service (customer supplies all materials)–per run | $30.00 | $35.00 | $40.00 | $50.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Bio-Rad CFX384 Touch Real-Time PCR Detection | ||||
| Self Service (customer supplies all materials) – per run | $30.00 | $35.00 | $40.00 | $50.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Bio-Rad droplet digital PCR QX200 | ||||
| Auto Droplet Generation | $30.00 | $32.00 | $34.00 | $38.00 |
| Full Service (includes all reagents/supplies needed except assays and restriction enzymes) | $89.00 | $94.00 | $120.00 | $120.00 |
| Self Service ( user provides all reagents except running oils, cartridges, tips, plates) | $60.00 | $68.00 | $104.00 | $104.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Fluidigm Biomark Microfluidic Real-time PCR Detection System | ||||
| 48.48 -per chip | $654.00 | $687.00 | $722.00 | $800.00 |
| 48.8 w/preamp -per chip | $880.00 | $924.00 | $971.00 | $1,069.00 |
| 96.96 -Chip | $1,405.00 | $1,476.00 | $1,550.00 | $1,705.00 |
| 96.6 w/preamp -per chip | $1,784.00 | $1,874.00 | $1,968.00 | $2,165.00 |
| 192.24 -per chip | $946.00 | $994.00 | $1,044.00 | $1,149.00 |
| 192.24 w/preamp -per chip | $1,777.00 | $1,866.00 | $1,960.00 | $2,156.00 |
| Instrument | IDDRC | BCH | External Academic | Industry |
| 10X Genomics Chromium Controller | ||||
| Coming Soon! | ||||
| Instrument | IDDRC | BCH | External Academic | Industry |
| Hamilton Microlab STARlet Automated Workstation | ||||
| Self Service | Contact | Contact | Contact | Contact |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Illumina NextSeq 500 | ||||
| Self Service (requires contract, please inquire)– per run | $50.00 | $50.00 | – | – |
| Full Service – customer supplied chip and reagents | Contact | Contact | Contact | Contact |
| Instrument | IDDRC | BCH | External Academic | Industry |
| Nanostring n-counter Sprint Profiler System (x2) Learn More > | ||||
| Standard (customer supplied chip and assay) – per sample | $24.50 | $25.00 | $27.00 | $30.00 |
| MiRNA (customer supplied chip and assay) – per sample | $29.50 | $31.00 | $33.00 | $37.00 |
| Self-Service – per run | $105.00 | $115.00 | $125.00 | $135.00 |