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Running PharmCAT on exome data

Status: Open.

#207 In PharmGKB/PharmCAT;

· anastasia-lucas opened on Mar 17, 2025

Feature request: PharmCAT accepts no-call result from outside call file

Status: Open.

#204 In PharmGKB/PharmCAT;

· holtjma opened on Dec 13, 2024

How to manage a phased vcf input?

Status: Open.

#201 In PharmGKB/PharmCAT;

· ManuRodriguezCano opened on Nov 19, 2024

UGT1A1 *80+*28 and *80+*37 output

Status: Open.

#197 In PharmGKB/PharmCAT;

· katrinsangkuhl opened on Oct 22, 2024

--absent-to-ref and --unspecified-to-ref

Status: Open.

#196 In PharmGKB/PharmCAT;

· BinglanLi opened on Oct 10, 2024

Document genes that shouldn't be set to reference

Status: Open.

#193 In PharmGKB/PharmCAT;

· markwoon opened on Aug 21, 2024

Publish to cloud tooling providers like Dockstore, AnVIL, etc

feature

Status: Open.

#188 In PharmGKB/PharmCAT;

· whaleyr opened on Jul 22, 2024

FHIR / HL7 support

feature

help wanted

Status: Open.

#186 In PharmGKB/PharmCAT;

· markwoon opened on Jul 10, 2024

Duplicated CYP2D6 diplotypes in matcher JSONs

Status: Open.

#184 In PharmGKB/PharmCAT;

· BinglanLi opened on Jun 11, 2024

Capture homozygous reference INDELs based on individual positions

Status: Open.

#182 In PharmGKB/PharmCAT;

· BinglanLi opened on Apr 24, 2024

PharmCAT Telemetry

feature

Status: Open.

#179 In PharmGKB/PharmCAT;

· markwoon opened on Mar 27, 2024

Support for various array data in tabular (CSV/TSV/XLSX) format

feature

help wanted

Status: Open.

Feature

#177 In PharmGKB/PharmCAT;

· whaleyr opened on Mar 25, 2024