AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders-Reference-Cited by-同舟云学术

AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

Published:2024-04-25 Issue:5 Volume:1 Page:
ISSN:2836-9386
Container-title:NEJM AI
language:en
Short-container-title:NEJM AI

Author:

Mao Dongxue¹²³^ORCID,Liu Chaozhong³⁴^ORCID,Wang Linhua³⁴^ORCID,AI-Ouran Rami¹³⁵^ORCID,Deisseroth Cole²³^ORCID,Pasupuleti Sasidhar¹³^ORCID,Kim Seon Young¹³^ORCID,Li Lucian¹³^ORCID,Rosenfeld Jill A.²^ORCID,Meng Linyan²⁶^ORCID,Burrage Lindsay C.²^ORCID,Wangler Michael F.²³^ORCID,Yamamoto Shinya²³^ORCID,Santana Michael⁶^ORCID,Perez Victor⁶^ORCID,Shukla Priyank⁶^ORCID,Eng Christine M.²⁶^ORCID,Lee Brendan²^ORCID,Yuan Bo²⁷^ORCID,Xia Fan²⁶^ORCID,Bellen Hugo J.²³⁸^ORCID,Liu Pengfei²⁶^ORCID,Liu Zhandong¹³^ORCID

Affiliation:

1. Department of Pediatrics, Baylor College of Medicine, Houston

2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston

3. Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Houston

4. Graduate School of Biomedical Sciences, Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston

5. Department of Data Science and AI, Al Hussein Technical University, Amman, Jordan

6. Baylor Genetics, Houston

7. Human Genome Sequencing Center, Baylor College of Medicine, Houston

8. Department of Neuroscience, Baylor College of Medicine, Houston

Publisher

Massachusetts Medical Society

Reference49 articles.

1. Exome sequencing identifies the cause of a mendelian disorder

2. Compelling Reasons for Repairing Human Germlines

3. Insights into genetics, human biology and disease gleaned from family based genomic studies

4. Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

5. Molecular diagnostic experience of whole-exome sequencing in adult patients

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