Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
March 19, 2020American Journal of Medical Genetics Part AOpen Access

Limitations of exome sequencing in detecting rare and undiagnosed diseases

View Full Paper
Ask AI
Bookmark
Share

Authors

KBKendall J. BurdickBoston Children's HospitalJCJoy D. CoganVanderbilt University Medical CenterLRLynette RivesVanderbilt University Medical Center

Discussion

Loading...

Member takes

Overview

Key Points

Key points are not available for this paper at this time.

Cite This Study

Burdick et al. (2020) studied this question.

synapsesocial.com/papers/6a9617f9ea02da4909c5d32fhttps://doi.org/10.1002/ajmg.a.61558
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions2014 · 483 citations
  2. 2Parental attitudes toward a diagnosis in children with unidentified multiple congenital anomaly syndromes2001 · 121 citations
  3. 3Copy-Number Variations, Noncoding Sequences, and Human Phenotypes2011 · 65 citations
  4. 4Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions2015 · 237 citations
  5. 5Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions2017 · 11 citations