Limitations of exome sequencing in detecting rare and undiagnosed diseases-Reference-Cited by-同舟云学术

Limitations of exome sequencing in detecting rare and undiagnosed diseases

Published:2020-03-19 Issue:6 Volume:182 Page:1400-1406
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Burdick Kendall J.¹^ORCID,Cogan Joy D.²,Rives Lynette C.²,Robertson Amy K.²,Koziura Mary E.²,Brokamp Elly²,Duncan Laura²,Hannig Vickie²,Pfotenhauer Jean²,Vanzo Rena³,Paul Michael S.³,Bican Anna²,Morgan Thomas²,Duis Jessica²^ORCID,Newman John H.⁴,Hamid Rizwan²,Phillips John A.²,

Affiliation:

1. University of Massachusetts of Medical School Worcester Massachusetts USA

2. Department of PediatricsVanderbilt University Medical Center Nashville Tennessee USA

3. Lineagen Inc. Salt Lake City Utah USA

4. Department of MedicineVanderbilt University Medical Center Nashville Tennessee USA

Funder

NIH Common Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61558

Reference34 articles.

1. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

2. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

3. An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease

4. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

5. Lessons learned from additional research analyses of unsolved clinical exome cases

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