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, +9

Genetics in Medicine

Allelic VariantSequence VariantsMedicineGeneticsAmerican College +9

College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

Nazneen Aziz, Qin Zhao, Lynn Bry, +14

Archives of Pathology & Laboratory Medicine

Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context

Hongmin Chen, Leon M. Wilkins, Nazneen Aziz, +11

Human Molecular Genetics

GeneticsImmunologyHuman PolymorphismGene CharacterizationGenomics +22

Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

Iris Schrijver, Nazneen Aziz, Daniel H. Farkas, +16

Journal of Molecular Diagnostics

A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults

Michael F. Murray, James P. Evans, Misha Angrist, +23

NAM Perspectives

Genetic TestingNewborn ScreeningBiobankMedicineGenetic Epidemiology +5

Methods-Based Proficiency Testing in Molecular Genetic Pathology

Iris Schrijver, Nazneen Aziz, Lawrence J. Jennings, +3

Journal of Molecular Diagnostics

Genetic TestingEngineeringGeneticsDiagnosisPathology +15

A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

Muin J. Khoury, W Feero, David Chambers, +10

PLoS Medicine

Demographic differences in the utilization of clinical and direct‐to‐consumer genetic testing

Nikki M. Carroll, Erica Blum‐Barnett, Sarah Madrid, +8

Journal of Genetic Counseling

Physician Experience with Direct-To-Consumer Genetic Testing in Kaiser Permanente

Pim Suwannarat, Andrea N. Burnett‐Hartman, Nikki M. Carroll, +6

Journal of Personalized Medicine

Family MedicineGenetic TestingPolygenic RiskGenetic EpidemiologyPopulation Health Sciences +22

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings

Ira M. Lubin, Nazneen Aziz, Lawrence Babb, +21

Journal of Molecular Diagnostics

Clinical SettingsSequencingNext-generation SequencingGeneticsGenetic Epidemiology +7