Genomics and Rare Diseases
Topics
Description: This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics s... more
Related topics (siblings) Advances in Cucurbitaceae Research, Animal Genetics and Reproduction, Bacterial Genetics and Biotechnology, Blood disorders and treatments, BRCA gene mutations in cancer +34 more
Subfield (parent): Genetics
Domain: Life Sciences
Works count: 31,150
Citations count: 623,600
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 · Sue Richards, Nazneen Aziz, et al. · Genetics in Medicine
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
2010 · Kai Wang, Man Li, et al. · Nucleic Acids Research
A method and server for predicting damaging missense mutations
2010 · Ivan Adzhubei, Steffen Schmidt, et al. · Nature Methods