A genome sequencing program for novel undiagnosed diseases | Zendy

Cinnamon S. Bloss | Zendy; Ashley A. ScottVan Zeeland | Zendy; Sarah E. Topol | Zendy; Burcu F. Darst | Zendy; Debra Boeldt | Zendy; Galina Erikson | Zendy; Kelly Bethel | Zendy; R. L. Bjork | Zendy; Jennifer Friedman | Zendy; Nelson Hwynn | Zendy; Bradley Patay | Zendy; Paul J. Pockros | Zendy; Erick R. Scott | Zendy; Ronald A. Simon | Zendy; Gary W. Williams | Zendy; Nicholas J. Schork | Zendy; Eric J. Topol | Zendy; Ali Torkamani | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

A genome sequencing program for novel undiagnosed diseases

Author(s) -

Cinnamon S. Bloss,

Ashley A. ScottVan Zeeland,

Sarah E. Topol,

Burcu F. Darst,

Debra Boeldt,

Galina Erikson,

Kelly Bethel,

R. L. Bjork,

Jennifer Friedman,

Nelson Hwynn,

Bradley Patay,

Paul J. Pockros,

Erick R. Scott,

Ronald A. Simon,

Gary W. Williams,

Nicholas J. Schork,

Eric J. Topol,

Ali Torkamani

Publication year - 2015

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2015.21

Subject(s) - context (archaeology) , disease , medicine , genetic counseling , genetic testing , genetic diagnosis , dna sequencing , rare disease , identification (biology) , genome , bioinformatics , genetics , gene , pathology , biology , paleontology , botany

The Scripps Idiopathic Diseases of Man (IDIOM) study aims to discover novel gene-disease relationships and provide molecular genetic diagnosis and treatment guidance for individuals with novel diseases using genome sequencing integrated with clinical assessment and multidisciplinary case review. Here we describe the operational protocol and initial results of the IDIOM study.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research