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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 1, 2019
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk
Ozlem Senol-Cosar, Ryan J Schmidt, Emily Qian, et al.
Journal of Personalized Medicine
|
March 2, 2016
Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine
Ellen A Tsai, Rimma Shakbatyan, Jason Evans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
International Journal of Medical Informatics
|
April 8, 2026
Precision Grounding: augmenting large language models with evidence-based databases for trustworthy genetic variant summarization
Xinsong Du, Anna Nagy, Michael F Oates, et al.
The Journal of Molecular Diagnostics : JMD
|
November 27, 2024
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead
Victoria M Pratt, Sara Akhavanfard, Jane Houldsworth, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 30, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization
Xinsong Du, Anna Nagy, Michael F Oates, et al.
European Journal of Human Genetics : EJHG
|
January 19, 2017
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome
Heather Mason-Suares, Diana Toledo, Jean Gekas, et al.
The Journal of Molecular Diagnostics : JMD
|
January 18, 2022
Automated Pharmacogenomic Reports for Clinical Genome Sequencing
Barbara J Klanderman, Christopher Koch, Kalotina Machini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 3, 2019
Correction: Variant classification changes over time in BRCA1 and BRCA2
Chloe Mighton, George S Charames, Marina Wang, et al.
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Search research articles
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Showing results (11-20 of 69) with videos related to
Sort By:
Page
of 7
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 1, 2019
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk
Ozlem Senol-Cosar, Ryan J Schmidt, Emily Qian, et al.
Journal of Personalized Medicine
|
March 2, 2016
Bioinformatics Workflow for Clinical Whole Genome Sequencing at Partners HealthCare Personalized Medicine
Ellen A Tsai, Rimma Shakbatyan, Jason Evans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level
Gwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
International Journal of Medical Informatics
|
April 8, 2026
Precision Grounding: augmenting large language models with evidence-based databases for trustworthy genetic variant summarization
Xinsong Du, Anna Nagy, Michael F Oates, et al.
The Journal of Molecular Diagnostics : JMD
|
November 27, 2024
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead
Victoria M Pratt, Sara Akhavanfard, Jane Houldsworth, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 30, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization
Xinsong Du, Anna Nagy, Michael F Oates, et al.
European Journal of Human Genetics : EJHG
|
January 19, 2017
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome
Heather Mason-Suares, Diana Toledo, Jean Gekas, et al.
The Journal of Molecular Diagnostics : JMD
|
January 18, 2022
Automated Pharmacogenomic Reports for Clinical Genome Sequencing
Barbara J Klanderman, Christopher Koch, Kalotina Machini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 3, 2019
Correction: Variant classification changes over time in BRCA1 and BRCA2
Chloe Mighton, George S Charames, Marina Wang, et al.
Page
of 7