Shanmuga Chitipiralla

National Center for Biotechnology Information — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

5h-index8.3kcitations15works15.32yr avg
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Research Topics

Genomics and Rare Diseases(8), BRCA gene mutations in cancer(5), Cancer Genomics and Diagnostics(5), Artificial Intelligence in Healthcare(2), Biomedical Text Mining and Ontologies(2)

Publications15 total

31. Somatic variant classifications in ClinVar: An update after one year
Cancer Genetics·2025
P306: MedGen: An integrated and comprehensive resource for medical genetics concepts and concept-associated information
Genetics in Medicine Open·2025· 1 citedOpen Access
P655: Improved representation of functional data in ClinVar
Genetics in Medicine Open·2025Open Access
P630: ClinGen curation of ClinVar: Improving a critical community resource*
Genetics in Medicine Open·2025Open Access
P729: Improved display and search of tests in the NIH Genetic Testing Registry (GTR)
Genetics in Medicine Open·2025Open Access
ClinVar: updates to support classifications of both germline and somatic variants
Nucleic Acids Research·2024· 91 citedOpen Access
O30: Graphics and filters make it easier to evaluate many variants in ClinVar search results*
Genetics in Medicine Open·2023Open Access
eP369: Increased automation reduces turnaround time for submissions to ClinVar
Genetics in Medicine·2022Open Access
ClinVar supports automated submission by API
Molecular Genetics and Metabolism·2021
How the NIH Genetic Testing Registry and Medical Genetics Summaries can help oncologists adopt pharmacogenetics guidelines.
Journal of Clinical Oncology·2020· 1 cited
ClinVar: improvements to accessing data
Nucleic Acids Research·2019· 1.0k citedOpen Access
ClinVar: improving access to variant interpretations and supporting evidence
Nucleic Acids Research·2017· 4.2k citedOpen Access
ClinVar: public archive of interpretations of clinically relevant variants
Nucleic Acids Research·2015· 2.8k citedOpen Access
The NIH Genetic Testing Registry and content tailored for oncologists.
Journal of Clinical Oncology·2015
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
Nucleic Acids Research·2012· 188 citedOpen Access

Frequent Co-authors

Douglas Hoffman(13), B Kattman(13), Wonhee Jang(11), Zenith Maddipatla(11), Melissa Landrum(9), Garth Brown(7), Chao Chen(7), Baoshan Gu(7), George Riley(7), Donna Maglott(7), Jennifer Hart(6), Adriana Malheiro(6), Kuljeet Kaur(6), Guangfeng Song(6), Chunlei Liu(5), Rama Maiti(5), Jinpeng Yang(5), Andrew Russette(5), Jennifer M. Lee(4), Kenneth Katz(4)