Concepedia

Real world outcomes and implementation pathways of exome sequencing in an adult genetic department

Maie Walsh, Kirsty West, Jessica Taylor, Bryony A. Thompson, Adelaide Hopkins, Adrienne Sexton, Abiramy Ragunathan, Kunal Verma, Julie Panetta, Ebony Matotek,

Genetics in Medicine · 2022 · 13 citations · 31 references

DOI

Concepts

References

31

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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott et al. · Human Mutation · 2016 · 1.7K citations · Full text

, , +17

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

, , +17

The Human Phenotype Ontology in 2021

Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu et al. · Nucleic Acids Research · 2020 · 1.2K citations · Full text

, , +15

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

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