Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations-Reference-Cited by-同舟云学术

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

Published:2019-10-22 Issue:11 Volume:40 Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fusco Carmela¹^ORCID,Copetti Massimiliano²,Mazza Tommaso³,Amoruso Luigi⁴,Mastroianno Sandra⁵,Nardella Grazia¹⁶,Guarnieri Vito¹,Micale Lucia¹^ORCID,D'Agruma Leonardo¹,Castori Marco¹

Affiliation:

1. Division of Medical Genetics Fondazione IRCCS‐Casa Sollievo della Sofferenza San Giovanni Rotondo Foggia Italy

2. Unit of Biostatistics Fondazione IRCCS‐Casa Sollievo della Sofferenza San Giovanni Rotondo Foggia Italy

3. Unit of Bioinformatics IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Foggia Italy

4. Division of Neurology Fondazione IRCCS‐Casa Sollievo della Sofferenza San Giovanni Rotondo Foggia Italy

5. Division of Cardiology Fondazione IRCCS‐Casa Sollievo della Sofferenza San Giovanni Rotondo Foggia Italy

6. Department of Experimental Medicine Sapienza University of Rome Rome Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23851

Reference14 articles.

1. Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools

2. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

3. HGVS Recommendations for the Description of Sequence Variants: 2016 Update

4. LOVD v.2.0: the next generation in gene variant databases

5. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

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