NCBI Posters at the Biology of Genomes Meeting

NCBI Posters at the Biology of Genomes Meeting

May 10-14, 2022

We are looking forward to the Biology of Genomes meeting, which will focus on “DNA sequence variation and its role in molecular evolution, population genetics and complex diseases, comparative genomics, large-scale studies of gene and protein expression, and genomic approaches to ecological systems.”

NCBI will present three posters to highlight our Comparative Genomics Resource (CGR) and the Allele Frequency Aggregator (ALFA):

  1. The NIH Comparative Genomics Resource: Amplifying the biology of genomes presented by Valerie Schneider, PhD

On behalf of NIH, NLM is developing the NIH Comparative Genomics Resource (CGR) at NCBI to facilitate organism-spanning data connections and promote new research discoveries. This initiative aims to connect NCBI genomics-associated data types and tools with resources external to NCBI to provide a foundation for reliable comparative analysis for all eukaryotic research organisms.

“We're excited to work with the community to develop tools, content and interfaces supporting researchers in the area of eukaryotic comparative genomics. We want to hear how NCBI can best provide a resource to support your analyses. Stop by and talk to me!”


-Valerie Schneider, Ph.D.

The NIH Comparative Genomics Resource: Amplifying the biology of genomes

2. Comparative Genomic Visualization at NCBI presented by Sanjida H Rangwala, PhD 

As part of the CGR project, the team will be updating old tools and building new visualization platforms to help researchers with comparative genome analysis. This poster presents our working prototype of a new genome viewer that visualizes pairwise assembly alignments. This new comparative viewer shows alignments projected onto whole genome ideograms, with an aim to help researchers find structural variation between aligned assemblies and obtain additional information about affected genomic regions.

“We look forward to introducing our new comparative genome viewer that visualizes pairwise assembly-assembly alignments. Come visit me to get a sneak peak of our working prototype.”


-Sanjida Rangwala, Ph.D.
Comparative Genomic Visualization at NCBI

3. NCBI ALFA Release 2 for 900 million Variants and Allele Frequency from 200 thousand dbGaP Subjects presented by Lon Phan, PhD 

NCBI Allele Frequency Aggregator (ALFA) aims to provide the largest and most comprehensive aggregated variant datasets with allele frequency from dbGaP studies as open-access. dbGaP has over two million subjects and up to billions of variants along with thousands of phenotypes and molecular assay datasets. This unprecedented volume and the variety of data hold huge opportunities for exploring and studying genetic variations within human populations and identify genetic factors that influence health and diseases to improve diagnosis, treatment, and prevention. ALFA Release 2 has over 900 million variants, including 300 million novel variants not in dbSNP Build 154. The data was generated from 79 dbGaP studies that included 192 thousand subjects and 5.8 trillion combined genotypes. Allele frequencies are available for 12 populations, including European, Hispanic, African, Asian, and other diverse population ancestries.

“Stop by my poster to learn about NCBI ALFA. We’re aiming to provide allele frequency from more than 1 million subjects by adding 100-200K new subjects available in dbGaP with each ALFA quarterly release.”


-Lon Phan, Ph.D.
NCBI ALFA Release 2 for 900 million Variants and Allele Frequency from 200 thousand dbGaP Subjects

In-person attendance is full, but registration for virtual participation is open! The full list of posters and presentations can be found here.

 

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