Choice of transcripts and software has a large effect on variant annotation-Reference-Cited by-同舟云学术

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Choice of transcripts and software has a large effect on variant annotation

Published:2014 Issue:3 Volume:6 Page:26
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Medicine

Author:

McCarthy Davis J,Humburg Peter,Kanapin Alexander,Rivas Manuel A,Gaulton Kyle,Cazier Jean-Baptiste,Donnelly Peter,

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine

Reference41 articles.

1. Charting a course for genomic medicine from base pairs to bedside

2. Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

3. Distribution and intensity of constraint in mammalian genomic sequence

4. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

5. A method and server for predicting damaging missense mutations

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