How genomic data is used in clinical diagnostics

New look and new functionality!

What's new in gene.iobio 2.5.0

Loading your variant and alignment files

Identifying problems with coverage

Output data from gene.iobio

Major update to gene.iobio

Using alternate references

What pathogenic variants do we know?

A new version of gene.iobio is now available

What are bookmarks and why should I use them?

Gene.iobio is featured in Genome - Unlocking Life's Code museum exhibition

How do I generate phenotype driven gene lists?

Analyzing genes identified by the ACMG

How do I analyze lists of genes, rather than a single gene?

Which gene set and transcript should I use?

Only display desired variants

Release of version 2.0 of gene.iobio with major new functionality

Analyzing a trio with iobio

Multi-sample vcf, https support, and allele counts

Polyphen & SIFT classifications, Regulatory annotations, and HGVS & dbSNP ids.

The .vcf.gz and .vcf.gz.tbi file pair

interrogate potential disease-causing variants