J
Jennifer Hart
Researcher at National Institutes of Health
Publications - 9
Citations - 6662
Jennifer Hart is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Ensembl & RefSeq. The author has an hindex of 8, co-authored 8 publications receiving 4793 citations. Previous affiliations of Jennifer Hart include University of California, Santa Cruz.
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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
RefSeq: an update on mammalian reference sequences
Kim D. Pruitt,Garth Brown,Susan M. Hiatt,Françoise Thibaud-Nissen,Alexander Astashyn,Olga Ermolaeva,Catherine M. Farrell,Jennifer Hart,Melissa J. Landrum,Kelly M. McGarvey,Michael R. Murphy,Nuala A. O'Leary,Shashikant Pujar,Bhanu Rajput,Sanjida H. Rangwala,Lillian D. Riddick,Andrei Shkeda,Hanzhen Sun,Pamela Tamez,Raymond E. Tully,Craig Wallin,David Webb,Janet Weber,Wendy Wu,Michael DiCuccio,Paul Kitts,Donna Maglott,Terence Murphy,James Ostell +28 more
TL;DR: The National Center for Biotechnology Information (NCBI) Reference Sequence (RefSeq) database is a collection of annotated genomic, transcript and protein sequence records derived from data in public sequence archives and from computation, curation and collaboration.
Journal ArticleDOI
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
Kim D. Pruitt,Jennifer Harrow,Rachel A. Harte,Craig Wallin,Mark Diekhans,Donna Maglott,Steve Searle,Catherine M. Farrell,Jane E. Loveland,Barbara J. Ruef,Elizabeth M. Hart,Marie-Marthe Suner,Melissa J. Landrum,Bronwen Aken,Sarah Ayling,Robert Baertsch,Julio Fernandez-Banet,Joshua L. Cherry,Val Curwen,Michael DiCuccio,Manolis Kellis,Jennifer M. Lee,Michael F. Lin,Michael Schuster,Andrew Shkeda,Clara Amid,Garth Brown,Oksana Dukhanina,Adam Frankish,Jennifer Hart,Bonnie L. Maidak,Jonathan M. Mudge,Michael R. Murphy,Terence Murphy,Jeena Rajan,Bhanu Rajput,Lillian D. Riddick,Catherine E. Snow,Charles A. Steward,David Webb,Janet Weber,Laurens G. Wilming,Wenyu Wu,Ewan Birney,David Haussler,Tim Hubbard,James Ostell,Richard Durbin,David J. Lipman +48 more
TL;DR: The CCDS database centralizes the function of identifying well-supported, identically-annotated, protein-coding regions and indicates that the entries in the CCDS set are highly likely to represent real proteins, more so than annotations from contributing groups not included in CCDS.
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.