OVERVIEW PacBio HiFi reads for HG001 (NA12878) and HG002 from target enrichment Twist Alliance Dark Gene Panel. 2 of the 12 samples sequenced on Revio SMRT cell are released here. METHODS SHEARING Covaris g-TUBE to target size of 8kb. TWIST LIBRARY Prepared according to https://www.twistbioscience.com/resources/protocol/long-read-library-preparation-and-standard-hyb-v2-enrichment Probes: Twist Alliance Dark Genes Panel PACBIO LIBRARY SMRTbell prep kit 3.0 Prepared according to https://www.pacb.com/wp-content/uploads/Procedure-checklist-Preparing-multiplexed-amplicon-libraries-using-SMRTbell-prep-kit-3.0.pdf SEQUENCING Revio system, 24 hr movie ANALYSIS Demultiplex with lima v2.5.0 Mark PCR Duplicates with pbmarkdups v1.0.2 Align to GRCh38_no_alt_analysis_set with pbmm2 v1.7.0 Call variants with pbsv v2.8 and DeepVariant v1.4.0 Phase with whatshap 1.1 FILE DESCRIPTION HG001.GRCh38_noalt.deepvariant.haplotagged.bam aligned HiFi reads, PCR duplicates marked, reads tagged by haplotype (HP tag) HG002.GRCh38_noalt.deepvariant.haplotagged.bam aligned HiFi reads, PCR duplicates marked, reads tagged by haplotype (HP tag) HG001.fastq.gz demultiplexed HiFi reads HG002.fastq.gz demultiplexed HiFi reads human_GRCh38_no_alt_analysis_set.fasta reference used to generate BAM files TwistAllianceDarkGenes_GeneList.txt gene list