ASHG 2026 · Gov/NGO

National Center for Biotechnology Information at ASHG 2026

Bethesda, Maryland

National Center for Biotechnology Information at ASHG 2026 in Montréal: 7 presentations (7 posters); 6 research groups.

7
presentations on the program
6
research groups identified

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
National Center for Biotechnology Information
Bethesda, Maryland
5 PIs · 1 Staff Scientist
ClinVarncbi.nlm.nih.gov/clinvar
Dry lab
Aggregates submitted human genomic-variation classifications and maps variants to HGVS reference sequences. Supports medical genetics through web, FTP and API access.
3 platforms and techniques
Techniques
HGVS-standard variant mapping, Variant-condition aggregation, Automated record flagging
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
Making ClinVar Search More Intuitive and Interoperable for Variant Classification
Genetic, Genomic, and Epigenomic Resources and Databases
Clinical geneticsClinical testingDatabasesGenetic variation
in“Hope to be at ASHG 2026 in Montréal!”
Protein Domains and Macromolecular Structures Groupncbi.nlm.nih.gov/Structure/structure_staff.html
Dry lab~17 people
Develops CDD, MMDB, VAST and related tools for conserved-domain and macromolecular-structure data. Supports sequence/function/structure discovery through Entrez.
13 platforms and techniques
Analyzes
Conserved Domain Database (CDD), Molecular Modeling Database (MMDB), VAST, RPS-BLAST, CDART, SPARCLE, Cn3D, iCn3D
Techniques
bioinformatics, protein classification, sequence/structure/function analysis, 3D structure comparison, biomolecular interaction analysis
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
Structure-based Ig-fold classification with IgStrand and graph neural networks enables functional insights into adhesion GPCRs and DIP/Dpr neural wiring proteins
Artificial Intelligence and Machine Learning
Collaborators: California State University, Northridge
Protein structureMachine learningImmune systemComputational tools
RefSeq eukaryotic curation Groupncbi.nlm.nih.gov/refseq
Dry lab
Curates eukaryotic transcript and protein records using BLAST, CAGE and polyA-seq evidence. Supports genome annotation and clinical reporting with EMBL-EBI.
4 papers since 2024
P660: MANE (Matched Annotation from NCBI and EMBL-EBI) version 1.5: An update with new non-coding genes and MANE Plus Clinical transcripts
Genetics in Medicine Open, 2026
Database resources of the National Center for Biotechnology Information in 2026
Nucleic Acids Research, 2025
NCBI RefSeq: reference sequence standards through 25 years of curation and annotation
Nucleic Acids Research, 2024
Source: OpenAlex author A5006152915
11 platforms and techniques
Analyzes
BLAST, RNA-Seq, CAGE, polyA-seq, Transcript Shotgun Assembly (TSA)
Techniques
Manual sequence curation, Sequence alignment analysis, Literature review, Quality-assurance review, RefSeq Select transcript selection, MANE transcript matching
Source: lab pages
No funding stated · No openings posted
Poster
Fri Oct 23
2:30 pm
MANE version 1.5 expands transcript standards with new non-coding genes and MANE Plus Clinical transcripts
Genetic, Genomic, and Epigenomic Resources and Databases
Clinical testingDiagnosticsTranscriptionGenetic testing
Human Genetic Variation
Works in population genetics and computational genetics.
Poster
Wed Oct 21
2:30 pm
Advancing Cross-Resource Genomic Discovery and Integrated Variant Interpretation through the NCBI Human Variation Resources
Molecular Effects of Genetic Variation
Genetic variationVariant interpretationDatabasesBioinformatics
Medical Genetics and Human Variation
Works in clinical genetics.
Poster
Wed Oct 21
2:30 pm
MedGen-based assessment of GTR-registered indications for genetic testing
Genetic, Genomic, and Epigenomic Resources and Databases
BioinformaticsClinical geneticsGenetic testingLaboratory genetics and genomics
NCBI Genome Browsers Team
Works in computational genetics.
Poster
Wed Oct 21
2:30 pm
From Study Registration to Access: Modernizing dbGaP to Improve Genomic Data Sharing
Genetic, Genomic, and Epigenomic Resources and Databases
Genome-wide association studyClinical geneticsExome/genome sequencingGenetic variation
1 more presenter — research group not yet identified

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