Human Medical Sequencing Program and Current Initiatives

Approved Medical Sequencing Projects


Initiative Disorder Contributing Investigator OMIM Number Center Status
Mendelian Lymphedema-Cholestasis Syndrome (LCS; Aagenaes Syndrome) Laura Bull
Completed
Mendelian Joubert Syndrome (JBTS1) Joseph Gleeson
Completed
Mendelian Dominant Restrictive Cardiomyopathy Margart Wallace
Completed
Mendelian Thoracic Aortic Aneurysms and Dissection (TAAD1) Dianna Milewicz
Completed
Mendelian Paroxysmal Kinesigenic Dyskinesia (PKD) Louis Ptacek
Completed
Mendelian Atrial Fibrillation, Dominant (ATFB2) Calum MacRae
Completed
Allelic Spectrum Age-Related Macular Degenration Goncalo Abecasis
In Progress
Allelic Spectrum Diabetes Michael Boehnke
In Progress - Combined with Freimer
Allelic Spectrum Metabolic Syndrome Nelson Freimer
In Progress - Combined with Boehnke
Allelic Spectrum Cardiovascular Disease Christine Seidman
In Progress
Allelic Spectrum Schizophrenia Patrick Sullivan
Sequencing Completed
Allelic Spectrum Cardiovascular Disease/Diabetes Eric Boerwinkle
Not Yet Assigned
Allelic Spectrum Early Onset Stroke Steven Kittner
Not Yet Assigned
Allelic Spectrum Neural Tube Defects Jasper Rine
Not Yet Assigned
Allelic Spectrum Tetralogy of Fallot Christine Seidman
Not Yet Assigned

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Last Reviewed: February 4, 2011