Melissa Landrum
A5054735767- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Cancer Genomics and Diagnostics
- Biomedical Text Mining and Ontologies
- Genetic factors in colorectal cancer
- Molecular Biology Techniques and Applications
- BRCA gene mutations in cancer
- Genetics, Bioinformatics, and Biomedical Research
- RNA and protein synthesis mechanisms
- CRISPR and Genetic Engineering
- Congenital heart defects research
- Ocean Acidification Effects and Responses
- Artificial Intelligence in Healthcare
- Machine Learning in Bioinformatics
- Bioinformatics and Genomic Networks
- Echinoderm biology and ecology
- Genetics and Neurodevelopmental Disorders
- Gene expression and cancer classification
- Genomic variations and chromosomal abnormalities
- Calcium Carbonate Crystallization and Inhibition
- RNA Research and Splicing
- Marine Biology and Environmental Chemistry
- Healthcare Operations and Scheduling Optimization
- Plant Virus Research Studies
- Genetic Mapping and Diversity in Plants and Animals
National Center for Biotechnology Information
2015-2025
National Institutes of Health
2015-2025
Memorial Sloan Kettering Cancer Center
2016
Mayo Clinic in Arizona
2016
Baylor College of Medicine
2006
California Institute of Technology
2006
Stazione Zoologica Anton Dohrn
2006
National Institute of Dental and Craniofacial Research
2006
Medical Genetics Center
1996
The RefSeq project at the National Center for Biotechnology Information (NCBI) maintains and curates a publicly available database of annotated genomic, transcript, protein sequence records (http://www.ncbi.nlm.nih.gov/refseq/). leverages data submitted to International Nucleotide Sequence Database Collaboration (INSDC) against combination computation, manual curation, collaboration produce standard set stable, non-redundant reference sequences. augments these sequences with current...
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations their significance to disease, maintained at the National Institutes Health. Interpretations clinical are submitted by testing laboratories, research expert panels other groups. aggregates data variant-disease pairs, variant (or set variants). Data aggregated accessible on website, in an improved call format files as new comprehensive XML report. recently...
ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports relationships among medically important variants and phenotypes. accessions submissions reporting human variation, interpretations the relationship that variation to health evidence supporting each interpretation. The database is tightly coupled with dbSNP dbVar, which maintain information about location on assemblies. also based phenotypic descriptions maintained in MedGen...
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive interpretations of clinical significance variants reported conditions. The database includes germline and somatic any size, type or genomic location. Interpretations are submitted by testing laboratories, research locus-specific databases, OMIM®, GeneReviews™, UniProt, expert panels practice guidelines. In NCBI's Variation submission portal, submitters...
The National Center for Biotechnology Information (NCBI) provides a large suite of online resources biological information and data, including the GenBank® nucleic acid sequence database PubMed citations abstracts published life science journals. Entrez system search retrieval operations most these data from 39 distinct databases. E-utilities serve as programming interface system. Augmenting many Web applications are custom implementations BLAST program optimized to specialized sets. New...
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows “likely pathogenic” variant for the condition on basis of study in an original research publication. Given dominant inheritance and risk sudden cardiac death, other members are tested determine their risk. Several test negative told they not at cardiomyopathy those who positive need be regularly monitored echocardiography. Five years later, during routine clinic visit...
To understand the biology and evolution of ruminants, cattle genome was sequenced to about sevenfold coverage. The contains a minimum 22,000 genes, with core set 14,345 orthologs shared among seven mammalian species which 1217 are absent or undetected in noneutherian (marsupial monotreme) genomes. Cattle-specific evolutionary breakpoint regions chromosomes have higher density segmental duplications, enrichment repetitive elements, species-specific variations genes associated lactation immune...
We report the sequence and analysis of 814-megabase genome sea urchin Strongylocentrotus purpuratus , a model for developmental systems biology. The sequencing strategy combined whole-genome shotgun bacterial artificial chromosome (BAC) sequences. This use BAC clones, aided by pooling strategy, overcame difficulties associated with high heterozygosity genome. encodes about 23,300 genes, including many previously thought to be vertebrate innovations or known only outside deuterostomes....
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 archives computation, curation collaboration (http://www.ncbi.nlm.nih.gov/refseq/). We report here on growth the mammalian human subsets, changes to NCBI's eukaryotic annotation pipeline modifications affecting records. Recent genome provide higher throughput, addition RNAseq results significant...
Abstract ClinVar is a freely available, public archive of human genetic variants and interpretations their relationships to diseases other conditions, maintained at the National Institutes Health (NIH). Submitted are aggregated made available on website (https://www.ncbi.nlm.nih.gov/clinvar/), as downloadable files via FTP through programmatic tools such NCBI’s E-utilities. The default view website, Variation page, was recently redesigned. new layout includes several sections that make it...
Effective use of the human and mouse genomes requires reliable identification genes their products. Although multiple public resources provide annotation, different methods are used that can result in similar but not identical representation genes, transcripts, proteins. The collaborative consensus coding sequence (CCDS) project tracks protein annotations on reference with a stable identifier (CCDS ID), ensures they consistently represented NCBI, Ensembl, UCSC Genome Browsers. Importantly,...
The National Center for Biotechnology Information (NCBI) provides online information resources biology, including the GenBank® nucleic acid sequence database and PubMed® of citations abstracts published in life science journals. NCBI search retrieval operations most these data from 35 distinct databases. E-utilities serve as programming interface New include Comparative Genome Resource (CGR) BLAST ClusteredNR database. Resources receiving significant updates past year PubMed, PMC, Bookshelf,...
The increasing application of genetic testing for determining the causes underlying Mendelian, pharmacogenetic, and somatic phenotypes has accelerated discovery novel variants by clinical genetics laboratories, resulting in a critical need interpreting significance these presenting considerable challenges. Launched 2013 at National Center Biotechnology Information, Institutes Health, ClinVar is public database researchers, expert panels, others to share their interpretations with evidence....
Abstract The National Center for Biotechnology Information (NCBI) provides online information resources biology, including the GenBank® nucleic acid sequence database and PubMed® of citations abstracts published in life science journals. NCBI search retrieval operations most these data from 35 distinct databases. E-utilities serve as programming interface Resources receiving significant updates past year include PubMed, PMC, Bookshelf, SciENcv, NIH Comparative Genomics Resource (CGR), Virus,...
Since its start, the Mammalian Gene Collection (MGC) has sought to provide at least one full-protein-coding sequence cDNA clone for every human and mouse gene with a RefSeq transcript, 6200 rat genes. The MGC cloning effort initially relied on random expressed tag screening of libraries. Here, we summarize our recent progress using directed RT-PCR DNA synthesis. now contains clones entire protein-coding 92% 89% genes curated (NM-accession) transcripts, 97% 96% transcripts that have or more...
Abstract ClinVar is a freely accessible, public archive of reports the relationships among genomic variants and phenotypes. To facilitate evaluation clinical significance each variant, aggregates submissions same displays supporting data from submission, determines if submitted interpretations are conflicting or concordant. The unit describes how to (1) identify sequence structural interest in by multiple searching approaches, including Variation Viewer (2) understand display evidence...
To truly achieve personalized medicine in oncology, it is critical to catalog and curate cancer sequence variants for their clinical relevance. The Somatic Working Group (WG) of the Clinical Genome Resource (ClinGen), cooperation with ClinVar multiple variant curation stakeholders, has developed a consensus set minimal level data (MVLD). MVLD framework standardized elements utility. With implementation standards, working partnership ClinVar, we aim streamline somatic efforts community reduce...
Effective exchange of information about genetic variants is currently hampered by the lack readily available globally unique variant identifiers that would enable aggregation from different sources. The ClinGen Allele Registry addresses this problem providing (1) "canonical" (CAids) on demand, either individually or in large batches; (2) access to variant-identifying a searchable Registry; (3) links allele-related records many commonly used databases; and (4) services for adding registered...
Pharmacogenomics (PGx) is focused on the relationship between an individual's genetic makeup and their response to medications, with overarching aim of guiding prescribing decisions improve drug efficacy reduce adverse events. The PGx genomic medicine communities have worked independently for over 2 decades, developing separate standards terminology, making implementation across all areas difficult. To address this issue, Clinical Genome Resource (ClinGen) Working Group (PGxWG) was...