Horizon Phaser

Interpret the genome the patient actually has

Phaser reads both of a patient's parental haplotype assemblies directly, so variants hidden outside the reference genome can finally be found, sized and reported.

Try Horizon See what Phaser finds

Why Phaser

If it isn't in the reference,
standard pipelines can't see it

Reference-based mapping leaves real, actionable variants undetected, often in the very genes clinical labs test most, such as SMN1/SMN2, STRC and PMS2.

What Phaser Reports

Four kinds of findings
from one analysis

Novel variant and sequence detection

Personalized haplotypes capture variation that has nowhere to land in a reference-based pipeline.

SNVs, indels and structural variants, gene by gene
Newly inserted sequence such as Alu elements
Phase-aware: flags damaging variants on different parental copies

Gene duplications

Near-identical gene copies that blur together with short reads are resolved on each haplotype.

Copy count for every gene
Which parental copy carries each duplicate
Exact location of every copy

Tandem repeat expansions

Expanded repeats longer than a short read are spelled out in full and sized per haplotype.

Repeats sized up to 10,000 bp
Separate call for each parental copy
Disease loci such as HTT and RFC1

HLA allele detection and pharmacogenomics

Some of the hardest regions to read with short reads are typed directly from each haplotype.

HLA typing from the same pass
Non-HLA pharmacogenomic alleles, including CYP2D6
Linked to curated drug-response evidence in Horizon

Validation

Benchmarked, and
built into Horizon

Validated on Genome in a Bottle samples. Phaser's findings feed straight into Horizon: ACMG classification for rare disease, the tumour profile for cancer, and drug evidence for pharmacogenomics.

Interpret the genome the patient actually has

If it isn't in the reference,standard pipelines can't see it

Four kinds of findingsfrom one analysis