Analysis and Annotation of Whole‐Genome or Whole‐Exome Sequencing Derived Variants for Clinical Diagnosis
Author:
Affiliation:
1. HudsonAlpha Institute for Biotechnology Huntsville Alabama
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cphg.49
Reference263 articles.
1. A map of human genome variation from population-scale sequencing
2. Accurate and comprehensive sequencing of personal genomes
3. Genetics of common complex diseases: a view from Iceland
4. McKusick's Online Mendelian Inheritance in Man (OMIM(R))
5. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
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