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Shanmuga Chitipiralla
Researcher at National Institutes of Health
Publications - 6
Citations - 4973
Shanmuga Chitipiralla is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Computer science & Turnaround time. The author has an hindex of 4, co-authored 4 publications receiving 3195 citations.
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Journal ArticleDOI
ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J. Landrum,Jennifer M. Lee,Mark L. Benson,Garth Brown,Chen Chao,Shanmuga Chitipiralla,Baoshan Gu,Jennifer Hart,Douglas W. Hoffman,Wonhee Jang,Karen Karapetyan,Kenneth S. Katz,Chunlei Liu,Zenith Maddipatla,Malheiro Aj,Kurt McDaniel,Michael Ovetsky,George R. Riley,George Zhou,J. Bradley Holmes,Brandi L. Kattman,Donna Maglott +21 more
TL;DR: ClinVar continues to make improvements to its search and retrieval functions.
Journal ArticleDOI
ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J. Landrum,Jennifer M. Lee,Mark L. Benson,Garth Brown,Chen Chao,Shanmuga Chitipiralla,Baoshan Gu,Jennifer Hart,Douglas W. Hoffman,Jeffrey Hoover,Wonhee Jang,Kenneth S. Katz,Michael Ovetsky,George R. Riley,Amanjeev Sethi,Raymond E. Tully,Ricardo Villamarin-Salomon,Wendy S. Rubinstein,Donna Maglott +18 more
TL;DR: ClinVar at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions, which includes germline and somatic variants of any size, type or genomic location.
Journal ArticleDOI
ClinVar: improvements to accessing data.
Melissa J. Landrum,Shanmuga Chitipiralla,Garth Brown,Chao Chen,Baoshan Gu,Jennifer Hart,Douglas W. Hoffman,Wonhee Jang,Kuljeet Kaur,Chunlei Liu,Vitaly Lyoshin,Zenith Maddipatla,Rama Maiti,Joseph Mitchell,Nuala A. O'Leary,George R. Riley,Wenyao Shi,George Zhou,Valerie A. Schneider,Donna Maglott,J. Bradley Holmes,Brandi L. Kattman +21 more
TL;DR: The ClinVar website and E-utilities both have been updated to support the VCV (variation in ClinVar) accession numbers found in the variant-centric XML file, and ClinVar's search engine has been fine-tuned for improved retrieval of search results.
Journal ArticleDOI
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
Wendy S. Rubinstein,Donna Maglott,Jennifer M. Lee,Brandi L. Kattman,Malheiro Aj,Michael Ovetsky,Vichet Hem,Viatcheslav Gorelenkov,Guangfeng Song,Craig Wallin,Nora Husain,Shanmuga Chitipiralla,Kenneth S. Katz,Douglas W. Hoffman,Wonhee Jang,Mark D. Johnson,Fedor Karmanov,Alexander Ukrainchik,Mikhail Denisenko,Cathy Fomous,Kathy L. Hudson,James Ostell +21 more
TL;DR: The National Institutes of Health Genetic Testing Registry (GTR) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis through basic information maintained in National Center for Biotechnology Information’s databases.
Journal ArticleDOI
eP369: Increased automation reduces turnaround time for submissions to ClinVar
Melissa J. Landrum,Shanmuga Chitipiralla,Garth Brown,Chao Chen,Baoshan Gu,Jennifer Hart,Douglas W. Hoffman,Wonhee Jang,Chunlei Liu,Zenith Maddipatla,Donna Maglott,Rama Maiti,Joseph Mitchell,Tayebeh Rezaie,George R. Riley,David Shao,George Zhou,Vitaly Lyoshin,Chris Swallow,Kuljeet Kaur,Andrew Russette,Brandi L. Kattman +21 more
TL;DR: ClinVar as discussed by the authors has a pre-submission validation for file submissions to reduce the turnaround time of processing data submissions, which has been shown to improve the quality of data submission.