Additional file 1 of Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning

Name: Additional file 1 of Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning
Creator: Yandell, Mark; Kingsmore, Stephen F.; Moore, Barry; Zoucha, Samuel; Bainbridge, Matthew N.; Brunelli, Luca; Peterson, Bennet; Sanford, Erica; Hernandez, Edgar Javier; Hobbs, Charlotte; Malone Jenkins, Sabrina; Rosales, Edwin; Oriol, Albert; Frise, Erwin
Published: 2024-08-13T00:00:00+08:00

Figshare2024-08-13 更新2026-04-08 收录

遗传病诊断

临床基因组学

数据链接：

https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Automated_prioritization_of_sick_newborns_for_whole_genome_sequencing_using_clinical_natural_language_processing_and_machine_learning/26575460 数据链接链接失效反馈

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资源简介：

Additional file 1: Table S1. Clinical diagnosis frequencies for sequenced RCHSD cases broken down by positive/negative molecular diagnosis status. Table S2. Primary clinical diagnoses for sequenced Utah NeoSeq cases broken down by positive/negative molecular diagnosis status. Table S3. Individual MPSE scores for RCHSD cohort patients. Table S4. Individual MPSE scores for Utah NeoSeq cohort patients.

提供机构：

Yandell, Mark; Kingsmore, Stephen F.; Moore, Barry; Zoucha, Samuel; Bainbridge, Matthew N.; Brunelli, Luca; Peterson, Bennet; Sanford, Erica; Hernandez, Edgar Javier; Hobbs, Charlotte; Malone Jenkins, Sabrina; Rosales, Edwin; Oriol, Albert; Frise, Erwin

创建时间：

2024-08-13