Literature DB >> 30285033

Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis.

Mahdi Sarmady1,2, Ahmad Abou Tayoun3.   

Abstract

Mesh：

Year:  2018        PMID： 30285033     DOI： 10.1001/jamapediatrics.2018.2675

Source DB:  PubMed          Journal:  JAMA Pediatr        ISSN： 2168-6203            Impact factor:   16.193


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  2 in total

1.  Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.

Authors:  Kiely N James; Michelle M Clark; Brandon Camp; Cyrielle Kint; Peter Schols; Sergey Batalov; Benjamin Briggs; Narayanan Veeraraghavan; Shimul Chowdhury; Stephen F Kingsmore
Journal:  NPJ Genom Med       Date:  2020-08-11       Impact factor: 8.617

Review 2.  A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting.

Authors:  Alan Taylor; Zeinab Alloub; Ahmad Abou Tayoun
Journal:  Genes (Basel)       Date:  2021-05-27       Impact factor: 4.096
  2 in total

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