NIH #1R21MH138855-01
A copy number variant discovery pipeline for integrated genome-exome sequencing
- Amount
- $206K
- Period
- 2025-09-01 → 2027-08-31
- PIs
- 1
- Est. capacity / PI
- ~1 students
Awarded at MASSACHUSETTS GENERAL HOSPITAL
Genomics and Rare Diseases · Genetics
12 total · 6 active
NIH #1R21MH138855-01
Awarded at MASSACHUSETTS GENERAL HOSPITAL
NIH #5R01DE031261-05
Awarded at MASSACHUSETTS GENERAL HOSPITAL
NIH #5R01DE031261-04
Awarded at MASSACHUSETTS GENERAL HOSPITAL
Student capacity is a rough estimate from remaining award size, split equally among PIs. Actual funding decisions vary.
Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.
The American Journal of Human Genetics · 2026-04-22 · 2 citations
Deleterious coding variation associated with autism is shared across ancestries
Nature Medicine · 2026-03-30
Data from: Tandem repeat variation shapes immune cell type-specific gene expression
Open MIND · 2026-01-01
Structural and transduction patterns of human-specific polymorphic SVA insertions
Mobile DNA · 2025-11-06 · 1 citations
Nature Communications · 2025-10-31 · 11 citations
De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism
Genetics in Medicine · 2025-10-25
Haploinsufficiency of <i>GRHL2</i> is associated with orofacial clefting in humans
Human Molecular Genetics · 2025-10-21
The American Journal of Human Genetics · 2025-10-06 · 3 citations
Journal of the Endocrine Society · 2025-10-01
SHARED AND DISTINCT GENETIC ARCHITECTURES OF AUTISM AND NEUROPSYCHIATRIC DISORDERS
European Neuropsychopharmacology · 2025-10-01
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
The American Journal of Human Genetics · 2025-09-02 · 3 citations
medRxiv · 2025-03-04
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathyPreprint
medRxiv · 2025-01-17 · 1 citations
Rare germline structural variants increase risk for pediatric solid tumors
Science · 2025-01-02 · 18 citations
Abstracts with programs - Geological Society of America · 2025-01-01
Abstracts with programs - Geological Society of America · 2025-01-01
Abstracts with programs - Geological Society of America · 2025-01-01
The American Journal of Human Genetics · 2024-11-08 · 23 citations
Tandem repeat variation shapes immune cell type-specific gene expressionPreprint
bioRxiv (Cold Spring Harbor Laboratory) · 2024-11-04 · 11 citations
Defining a tandem repeat catalog and variation clusters for genome-wide analysesPreprint
bioRxiv (Cold Spring Harbor Laboratory) · 2024-10-05 · 13 citations