Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders-Reference-Cited by-同舟云学术

Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders

Published:2021-05-19 Issue:8 Volume:185 Page:2561-2571
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Marinakis Nikolaos M.¹^ORCID,Svingou Maria¹,Veltra Danai¹,Kekou Kyriaki¹,Sofocleous Christalena¹²,Tilemis Faidon‐Nikolaos¹²,Kosma Konstantina¹,Tsoutsou Eirini¹,Fryssira Helen¹,Traeger‐Synodinos Joanne¹

Affiliation:

1. Laboratory of Medical Genetics St. Sophia's Children's Hospital, National and Kapodistrian University of Athens Athens Greece

2. Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood St. Sophia's Children's Hospital, National and Kapodistrian University of Athens Athens Greece

Funder

Hellenic Foundation for Research and Innovation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62338

Reference43 articles.

1. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

2. Applying filtration steps to interpret the results of whole‐exome sequencing in a consanguineous population to achieve a high detection rate;Alfares A. A.;International Journal of Health Sciences,2018

3. OMIM.org: leveraging knowledge across phenotype–gene relationships

4. A global reference for human genetic variation

5. State of the art of rare disease activities in Europe: a EUCERD perspective

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