Whole Genome Sequencing Variant Pipeline

Analyze human PacBio whole genome sequencing (WGS) data to produce sequence alignment and variant calls for a sample or cohort.
alignment fastq genome hifi

Drug Resistance Marker Detection

Generate a report summarizing drug resistance markers detected in a given set of variant calls.
annotation drug-resistance long-read variants

DRAGEN - Whole Genome Germline Single Sample Analysis

DRAGEN functional equivalence germline SNP and indel discovery in human whole genome sequencing data.
dragen

DRAGEN - Variant Calling and Filtering

DRAGEN functional equivalence discovery and filtering of SNPs and indels.
dragen filtering variants

Sentieon Long Read Germline Whole Genome Sequencing Analysis

Perform alignment and variant calling for SNPs, small indels, and structural variants using Sentieon.
alignment fastq long-read sentieon variants wgs

Sentieon Germline Whole Genome Sequencing Analysis

Align reads to the reference genome, call variants, and calculate quality metrics using Sentieon.
alignment germline variants wgs

Sentieon Somatic Variant Calling

Compare tumor/normal samples and call somatic variants using Sentieon.
alignment normal tumor variants

Whole Genome Variant Calling

Call small and structural variants using Oxford Nanopore data.
alignment long-read mtDNA structural variants variants