Jin Yu
@jinyu2024.bsky.social
Having fun in AI, bioinformatics and statistical genetics | Co-founder at GENOS | Build a long-term sustainble and developer/user friendly data infrastructure for clinical genomic and genetic research https://dbnsfp.org.
We are excited to announce the release of dbNSFP v5.3, featuring an expansion of 1.6 million new possible nsSNVs (non-synonymous SNVs) and ssSNVs (splice site SNVs) derived from newly added protein-coding transcripts in GENCODE Human Release 49 using long read NGS data.
www.dbnsfp.org/releases
www.dbnsfp.org/releases
October 14, 2025 at 10:18 PM
We are excited to announce the release of dbNSFP v5.3, featuring an expansion of 1.6 million new possible nsSNVs (non-synonymous SNVs) and ssSNVs (splice site SNVs) derived from newly added protein-coding transcripts in GENCODE Human Release 49 using long read NGS data.
www.dbnsfp.org/releases
www.dbnsfp.org/releases
We are pleased to announce the release of dbNSFP v5.2, featuring several major updates that will enhance variant annotation and pathogenicity prediction workflows.
dbNSFP - Releases
Current Release:
dbNSFP v5.2 (July 2, 2025) (README v5.2a, README v5.2c, Change Log)
Rebuilt variant set for all possible nsSNVs and ssSNVs based on latest GENCODE release 48 (Ensembl v114).
Added ...
www.dbnsfp.org
July 3, 2025 at 7:00 PM
We are pleased to announce the release of dbNSFP v5.2, featuring several major updates that will enhance variant annotation and pathogenicity prediction workflows.
We’ve just released a minor update to the dbNSFP commercial branch v5.1.1c, which now includes ClinPred, REVEL, and PHACTboost scores.
www.dbnsfp.org/releases
www.dbnsfp.org/releases
dbNSFP - Releases
Current Release:
dbNSFP v5.1 (March 21, 2025) (Highlights, README v5.1a, Change Log)
Rebuilt variant set (all potential nsSNVs and ssSNVs) based on latest GENCODE release 47 (Ensembl v113).
Added Al...
www.dbnsfp.org
April 25, 2025 at 5:17 PM
We’ve just released a minor update to the dbNSFP commercial branch v5.1.1c, which now includes ClinPred, REVEL, and PHACTboost scores.
www.dbnsfp.org/releases
www.dbnsfp.org/releases
We are pleased to share the latest CAGI (Critical Assessment of Genome Interpretation) report on the Annotate-All-Missense (Missense Marathon) challenge has been peer-reviewed and published.
link.springer.com/article/10.1...
link.springer.com/article/10.1...
Critical assessment of missense variant effect predictors on disease-relevant variant data - Human Genetics
Regular, systematic, and independent assessments of computational tools that are used to predict the pathogenicity of missense variants are necessary to evaluate their clinical and research utility an...
link.springer.com
April 3, 2025 at 3:44 PM
We are pleased to share the latest CAGI (Critical Assessment of Genome Interpretation) report on the Annotate-All-Missense (Missense Marathon) challenge has been peer-reviewed and published.
link.springer.com/article/10.1...
link.springer.com/article/10.1...
1. dbNSFP just made a new release v5.1, which now includes variant allele frequencies among ~1.5 million individuals aggregated from largest sequencing projects such as gnomAD (including UKB WES), TOPMed, All of Us and Regeneron 1M WES.
www.dbnsfp.org/blog/highlig...
www.dbnsfp.org/blog/highlig...
dbNSFP - Highlights in dbNSFP v5.1
Highlights in dbNSFP v5.1
March 21, 2025
Jin Yu & Xiaoming Liu
www.dbnsfp.org
March 27, 2025 at 6:50 PM
1. dbNSFP just made a new release v5.1, which now includes variant allele frequencies among ~1.5 million individuals aggregated from largest sequencing projects such as gnomAD (including UKB WES), TOPMed, All of Us and Regeneron 1M WES.
www.dbnsfp.org/blog/highlig...
www.dbnsfp.org/blog/highlig...