Deanna M. Church
A5089568820- Genomics and Phylogenetic Studies
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- RNA and protein synthesis mechanisms
- Cancer Genomics and Diagnostics
- Genetics, Bioinformatics, and Biomedical Research
- Genomics and Chromatin Dynamics
- Single-cell and spatial transcriptomics
- Biomedical Text Mining and Ontologies
- Molecular Biology Techniques and Applications
- Genetic Neurodegenerative Diseases
- Acute Myeloid Leukemia Research
- Gene expression and cancer classification
- CRISPR and Genetic Engineering
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Animal Genetics and Reproduction
- Congenital heart defects research
- Genetic diversity and population structure
- Genetic Mapping and Diversity in Plants and Animals
- Prenatal Screening and Diagnostics
- Insect behavior and control techniques
- Identification and Quantification in Food
10X Genomics (United States)
2016-2020
Memorial Sloan Kettering Cancer Center
2018
National Center for Biotechnology Information
2007-2017
National Institutes of Health
2007-2017
Personalis (United States)
2014-2017
Centers for Disease Control and Prevention
2015
European Bioinformatics Institute
2012
Medical University of Graz
2009-2011
United States National Library of Medicine
2011
Pennsylvania State University
2003
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...
The human reference genome assembly plays a central role in nearly all aspects of today's basic and clinical research. GRCh38 is the first coordinate-changing update since 2009; it reflects resolution roughly 1000 issues encompasses modifications ranging from thousands single base changes to megabase-scale path reorganizations, gap closures, localization previously orphaned sequences. We developed new approach sequence generation for targeted updates used data mapping technologies haplotype...
In addition to maintaining the GenBank(R) nucleic acid sequence database, National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources data in GenBank other biological available through NCBI's web site. NCBI include Entrez, Entrez Programming Utilities, My NCBI, PubMed, PubMed Central, Gene, Taxonomy Browser, BLAST, BLAST Link, Electronic PCR, OrfFinder, Spidey, Splign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes, Genome, Genome...
The incomplete identification of structural variants (SVs) from whole-genome sequencing data limits studies human genetic diversity and disease association. Here, we apply a suite long-read, short-read, strand-specific technologies, optical mapping, variant discovery algorithms to comprehensively analyze three trios define the full spectrum variation in haplotype-resolved manner. We identify 818,054 indel (<50 bp) 27,622 SVs (≥50 per genome. also discover 156 inversions genome 58 intersect...
Determining the genome sequence of an organism is challenging, yet fundamental to understanding its biology. Over past decade, thousands human genomes have been sequenced, contributing deeply biomedical research. In vast majority cases, these analyzed by aligning reads a single reference genome, biasing resulting analyses, and in general, failing capture sequences novel given genome. Some de novo assemblies constructed free bias, but nearly all were merging homologous loci into "consensus"...
In addition to maintaining the GenBank® nucleic acid sequence database, National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources data in GenBank other biological made available through NCBI web site. include Entrez, Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central, Gene, Taxonomy Browser, BLAST, BLAST Link (BLink), Electronic PCR, OrfFinder, Spidey, Splign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes, Genomes...
In addition to maintaining the GenBank® nucleic acid sequence database, National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources data in GenBank other biological made available through NCBI's Web site. NCBI include Entrez, Entrez Programming Utilities, My NCBI, PubMed, PubMed Central, Gene, Taxonomy Browser, BLAST, BLAST Link(BLink), Electronic PCR, OrfFinder, Spidey, Splign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes, Genome,...
In addition to maintaining the GenBank® nucleic acid sequence database, National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources data in GenBank other biological made available through NCBI Web site. include Entrez, Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central (PMC), Gene, Taxonomy Browser, BLAST, BLAST Link (BLink), Primer-BLAST, COBALT, Electronic PCR, OrfFinder, Splign, ProSplign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP,...
I have read the journal's policy and following conflicts: Paul Flicek is married to deputy editor of PLoS Medicine, Melissa Norton. Evan Eichler on board Pacific Biosciences. Support for this work came from Intramural Research Program NIH, The National Library European Molecular Biology Laboratory, Wellcome Trust (grant number 077198), Howard Hughes Medical Institute (EEE). funders had no role in study design, data collection analysis, decision publish or preparation manuscript.
In addition to maintaining the GenBank® nucleic acid sequence database, National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources data in GenBank other biological made available through NCBI web site. include Entrez, Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central, Gene, Taxonomy Browser, BLAST, BLAST Link (BLink), Electronic PCR, OrfFinder, Spidey, Splign, Reference Sequence, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, Cancer Chromosomes,...
In addition to maintaining the GenBank® nucleic acid sequence database, National Center for Biotechnology Information (NCBI) provides analysis and retrieval resources data in GenBank other biological made available through NCBI Website. include Entrez, Entrez Programming Utilities, MyNCBI, PubMed, PubMed Central (PMC), Gene, Taxonomy Browser, BLAST, BLAST Link (BLink), Primer-BLAST, COBALT, Splign, RefSeq, UniGene, HomoloGene, ProtEST, dbMHC, dbSNP, dbVar, Epigenomics, Genome related tools,...
A finished clone-based assembly of the mouse genome reveals extensive recent sequence duplication during evolution and rodent-specific expansion certain gene families. Newly assembled duplications contain protein-coding genes that are mostly involved in reproductive function.
The NCBI Assembly database (www.ncbi.nlm.nih.gov/assembly/) provides stable accessioning and data tracking for genome assembly data. model underlying the can accommodate a range of structures, including sets unordered contig or scaffold sequences, bacterial genomes consisting single complete chromosome, complex structures such as human with modeled allelic variation. an accession version to unambiguously identify set sequences that make up particular assembly, tracks changes updated...
Much has changed in the last two years at DGVa (http://www.ebi.ac.uk/dgva) and dbVar (http://www.ncbi.nlm.nih.gov/dbvar). We are now processing direct submissions rather than only curating data from literature our joint study catalog includes over 100 studies 11 organisms. Studies human dominate with control case populations, tumor samples as well three large curated derived multiple sources. During of these data, we have made improvements to model, submission process representation....
Large-scale population analyses coupled with advances in technology have demonstrated that the human genome is more diverse than originally thought. To date, this diversity has largely been uncovered using short-read whole-genome sequencing. However, these approaches fail to give a complete picture of genome. They struggle identify structural events, cannot access repetitive regions, and resolve into haplotypes. Here, we describe an approach retains long range information while maintaining...