Welcome to the PrecisionLink Biobank for Health Discovery
Boston Children's Hospital (BCH) leads the Genomic Information Commons (GIC). The GIC is a multi institutional resource affording access to electronic health record data on millions of patients as well as prospectively enrolled broadly consented cohorts with genomic data and biospecimens. The GIC creates opportunities for investigators to conduct a range of genomics, biomarker, and epidemiological research.
The GIC web portal provides ready access through a browser to the aggregated genomic data, phenotypic data, and biospecimen metadata on prospectively enrolled, broadly consented participants across all sites. The portal is available to all Boston Children's Hospital researchers with up-to-date CITI training, and produces instant summaries of aggregate results, which then allows the user to request detailed, line-level data for either single or multi-site research projects. BCH investigators may choose to pursue only BCH populations with samples and data (in pink below) through the local PrecisionLink Biobank, or, collaborate with other participating sites on a shared dataset (in blue below).
2,935,100
BCH Participants
54,281
BCH Biobank Samples
34,673
Biobank Participants
7,299
Participants with Genomic Data
14,023,609
GIC Participants
187,469
GIC Biosamples
149,865
Participants with GIC Research Consent
33,584
GIC Participants with Genomic Data
The GIC Portal:
- Provides access to genomic data, phenotypic data, and biospecimen metadata on broadly consented cohorts at Boston Children's Hospital and other participating network sites.
- Leverages an inter-institutional patient population of diverse backgrounds with unparalleled representation across the spectrum of diseases.
- Provides the ability to perform multi criteria queries - portal users can search for genomic data, phenotypic data, biospecimens and biospecimen metadata all within one query.
- Catalyzes genomic research discovery for all diseases.
How to Access the Portal:
- To request access to the Portal, fill out this request form to confirm your employment at Boston Children's Hospital and to confirm your CITI training is up to date.
- A member of our team will be in touch once you have been granted permission to access the Portal.
- Make sure you are on Boston Children's network or on Boston Children's full Virtual Private Network (VPN).
- Log in here with your Boston Children's institutional login credentials.
Request Samples and/or Data:
- Use the GIC Portal to build your cohort and create your dataset.
- Engage collaborating PIs from sites that you wish to request samples & data from in addition to Boston Children's Hospital.
- The lead researcher (PI) at the primary institution will fill out and submit the Sample and Data Request form via the GIC portal.
- Once approved, release of samples and data from other participating GIC institutions will be de-identified and made available for data analytics via AWS ServiceWorkbench .
Enroll BCH Patients:
- You can create a new informed consent form in which patients enroll in both your study and the BCH PrecisionLink Biobank. Our core lab then processes and manages biospecimens for you.
- Simply fill out this form
and indicate 'Set up of a merged protocol' to get started or email
Contact the BCH Biobank Team at BCHBiobank4Discovery@childrens.harvard.edu
Merged Protocols
| PROJECT | Patient Population | Protocol # | PI |
|---|---|---|---|
| A PROSPECTIVE ADULT CONGENITAL HEART DISEASE BIOREPOSITORY | CHD | P00003910 | AMY ROBERTS |
| Bilateral And unilateral Genetic Hearing Loss (BAGHL) | Congenital Sensorineural Hearing Loss | P00031494 | MARGARET KENNA |
| BIOBANK TO INVESTIGATE THE GENOMICS OF KIDNEY DISORDERS (BIGKIDS) | Nephrotic Syndrome, Glomerular Disease | P00034216 | MATTHEW SAMPSON |
| BIOLOGY RESPONSIBLE FOR ACUTE HYPOXIA AND ITS EVOLUTION (BREATHE) | Acute Respiratory Distress Syndrome | P00041041 | Jane Whitney |
| Biomarkers in Neuroinflammatory Disorders | Neuroinflammatory Disease | P00036262 | Leslie Benson |
| Cardiovascular & Critical Care (CVCC) Cluster Biorepository | Cardiomyopathy | P00027229 | AMY ROBERTS |
| CEREBRAL PALSY (CP) SEQUENCING INITIATIVE | Cerebral Palsy | P00032816 | SIDDHARTH SRIVASTAVA |
| Cerebrovascular Disorders Sequencing Initiative | Cerebrovascular disorders/vascular malformations of the brain | P00039690 | SIDDHARTH SRIVASTAVA |
| CHIldhood VEstibulopathy Sequencing (CHIVES) Study | Peripheral Vestibular Disorders | P00037613 | ELIOT SHEARER |
| Comprehensive Genomics for Full Evaluation of Pediatric Hearing Loss (COFFEE) | Congenital Hearing Loss | P00035179 | ELIOT SHEARER |
| Congenital Diarrhea and Enteropathy (CODE) Biorepository and Data Registry | Congenital Diarrheas and Enteropathies | P00027983 | JAY THIAGARAJAH / Jocelyn Silvester |
| CONGENITAL HEART DISEASE AND AUTISM SPECTRUM DISORDER (CHD-ASD) Sequencing Initiative | Congenital Heart Disease and Autism Spectrum Disorder | P00039667 | MAYA CHOPRA |
| Cornelia de Lange Syndrome and Related Disorders: From Gene to Disease | Cornelia de Lange Syndrome | P00040134 | PHILIP BOONE |
| CSF PROTEOMICS AND RNA TRAJECTORIES THROUGH DEVELOPMENT | Patients who had a lumbar puncture | P00030371 | JOSEPH GONZALEZ-HEYDRICH |
| CYP2D6 GENOTYPE AND FLECAINIDE RESPONSE | Patients with CYP2D6 mutation | P00031844 | SHANNON MANZI |
| Data repository for the study of brain injury and other acute neurologic conditions | Patients with acute neurological conditions, TBI, seizures, VP shunt malfunction | P00041367 | Rebekah Mannix |
| EXAMINING GENETIC MARKERS IN SEVERE EARLY ONSET Mental Health Conditions WITH THE BIOBANK | Severe Early Onset Major Depression, Early Onset Psychosis | P00031368 | JOSEPH GONZALEZ-HEYDRICH |
| FECAL AND SEROLOGIC BIOMARKERS FOR USE IN THE DIAGNOSIS AND INTERVAL ASSESSMENT OF PATIENTS WITH INFLAMMATORY BOWEL DISEASE | IBD | P00026020 | PAUL RUFO |
| Gastrointestinal-Omics Study of Bariatric Surgery in Adolescent Patients | Patients undergoing bariatric surgery | P00037778 | Margaret Stefater |
| Genetic Studies of Strabismus and Associated Disorders | Nystagmus, Infantile Esotropia | P00036313 | MARY WHITMAN |
| Genetic Variants in Pubertal Timing | "Precocious Puberty | P00040072 | STEPHANIE ROBERTS |
| Genetics and Phenotype of Osteogenesis Imperfecta: The Role of Modifying Mutations | OI | P00033439 | CHRISTINA JACOBSEN |
| GENETICS OF DISORDERS OF SEX DEVELOPMENT AND HYPOSPADIAS | Disorders of Sexual Development/Severe Hypospadias | P00012912 | Yee-Ming Chan |
| GENETICS OF EARLY CHILDHOOD OBESITY | Obesity | P00009351 | VIDHU THAKER |
| GENETICS OF EPILEPSY AND COGNITIVE DISORDERS | Brain Malformations | 05-05-076R | CHRISTOPHER WALSH |
| GENETICS OF EPILEPSY AND OTHER RELATED DISORDERS | Epilepsy | X10-04-0197 | ANN PODURI |
| Genetics of Neuropsychiatric and Neurodevelopmental Disorders | Disorders Impacting Social and Cognitive Functioning (ADHD, Dyslexia, OCD, Bipolar Disorder, or a related disorder) | P00033450 | RYAN DOAN |
| GENETICS OF OPSOCLONUS MYOCLONUS SYNDROME STUDY | OPSOCLONUS MYOCLONUS | P00027605 | MARK GORMAN |
| Genetics of Pediatric Diabetes | Diabetes and hyperglycemia | P00047060 | Katharine Garvey |
| HSP Sequencing Initiative | "Hereditary Spastic Paraplegia | P00039630 | DARIUS EBRAHIMI-FAKHARI |
| ICE-LDL: Immune Cell Metabolism with Elevated Low-Density Lipoprotein Cholesterol | Patients with elevated LDL | P00028236 | MIKE MENDELSON --> Jacob Hartz |
| Maternal Fetal Care Center Biobank Merged Protocol | Patients seen in the MFCC | P00045050 | Alireza Shamshirsaz |
| Molecular and Genomic Studies of Bone Marrow Failure and Myelodysplastic Syndromes | Bone Marrow Failure and Leukemia Predisposition | P00021042 | AKIKO SHIMAMURA |
| Monogenic Causes of Nephrolithiasis and Related Disorders | Pediatric Urinary Tract Stone Disease, Chronic Kidney Disease | P00038872 | AMAR MAJMUNDAR |
| NEONATAL INTENSIVE CARE UNIT (NICU) BIOREPOSITORY | Neonatal Intensive Care Unit | P00026877 | Sarah Morton |
| PEDIATRIC GASTROINTESTINAL DISEASE BIOSPECIMEN REPOSITORY AND DATA REGISTRY | IBD | P00000529 | SCOTT SNAPPER |
| PEDIATRIC URINARY PROTEOME PROGRAM INITIATIVE (PUPPI) | Bladder Exstrophy-Epispadias Complex, Disorders of Voiding | X06-05-0271 | Richard Lee |
| PHYSICAL ACTIVITY AND HEALTH IN TRANS YOUTH (PHIT) | Patients undergoing gender affirming steroid treatment | P00038941 | KATE MILLINGTON --> Rebecca Harris |
| Plastics-Cranio Repository | Craniofacial conditions | P00022614 | Daniel Balkin |
| PULMONARY BIOBANKING INITIATIVE | Respiratory illnesses, specifically bronchiectasis, ILD | P00031211 | BENJAMIN RABY |
| Registry and Repository of childhood-onset movement disorders | Hyperkinetic Disorders | P00037085 | CLAUDIO MELO DE GUSMAO |
| Sequencing for patients with intestinal failure due to malrotation and volvulus | Intestinal Failure | P00039894 | CHRISTOPHER DUGGAN |
| Shwachman Diamond Syndrome Registry and Study | Shwachman-Diamond Syndrome | P00020466 | AKIKO SHIMAMURA |
| STUDIES OF IMMUNOLOGICAL DEFICIENCY SYNDROMES | Immunodeficiencies, Autoimmunity, and Immune Dysregulation | 04-09-113R | JANET CHOU |
| UNCOVERING THE GENETIC BASIS OF EHLERS DANLOS SYNDROME, HYPERMOBILE TYPE | Ehlers Danlos Syndrome or Related Conditions | P00017982 | JOEL HIRSCHHORN |
| UNCOVERING THE GENETIC BASIS OF IDIOPATHIC SHORT STATURE | Idiopathic Short Stature | 09-10-0534 | JOEL HIRSCHHORN |
Inter-Institutional Genomic Data, Phenotypic Data, and Biospecimen Metadata at Boston Children's and Other Institutions
Contact Us
Contact the GIC at GIC-contact@chip.org