PacBio will no longer be attending, hosting, or livestreaming our in-person PAG XXIX Workshop for the safety of our attendees, employees, and our communities. Sign up to receive updates for our upcoming virtual program.

Find out how HiFi sequencing is helping scientists find accurate and actionable genome-wide insights into species and populations for agriculture, conservation, and ecology.

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WORKSHOP

Accurate & Actionable Genomic Data for Agriculture, Conservation, and Ecology

Date and Time: Monday, January 10, 2022 12:50 PM - 3:00 PM
Location: Town and Country C - View Program

Speakers

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Pacbio Poster Presentations

Scalable PacBio HiFi Library Prep for High-Quality Genome Assemblies

Authors: Jacob Brandenburg, Aaron Wenger, Christine Lambert, Heather Ferrao

Jacob Brandenburg, Senior Specialist, Segment Marketing, PacBio

Long-read whole genome sequencing (WGS) for plants and animals has allowed scientists to tackle the assembly of genomes ranging in size, ploidy, and repeat content. HiFi WGS enables complete, accurate, and contiguous assemblies of even the most complex genomes. As a result, HiFi WGS has been adopted by many biodiversity genomics consortia and agriculture researchers to assemble thousands of genomes. While HiFi WGS simplifies the bioinformatics of genome assembly, library preparation remains a common challenge, especially for scientists sequencing organisms which yield low quantities of DNA or have very large genomes that require multiple libraries for a single de novo assembly.

An Evaluation of Bioinformatics Tools for HiFi Plant Pangenomes

Authors: Greg Concepcion, Michelle Vierra

Greg Concepcion, Staff Engineer, Bioinformatics, PacBio

With the increasing prevalence of high-quality assembled genomes, access to the pangenomes of species is now an achievable possibility for researchers with all research budgets. However, the tools to visualize, analyze, and extract actionable information from these pangenome datasets are still in their infancy. Using a large plant pangenome dataset, we evaluated the pangenome graph builder pipeline for building a pangenome graph of the species and use these evaluations to provide basic recommendations for how to best manipulate and visualize these pangenomic datasets with other downstream tools including the vg toolkit.

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Pacbio Presentations

Monday, October XX X:00 pm PST

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Pacbio colab talk

Monday, October XX X:00 pm PST

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Presentations + Posters

#	Title	First Author
2046	Automated repeat characterization of filaggrin from PacBio Sequel HiFi long reads	A. Hawes
2115	Genomic variant detection within human segmental duplications	D. Soto
2123	High-throughput sequencing and mapping technologies applied to 10 human genomes with chromothripsis-like rearrangements	U. Melo
2153	Maximizing the quality of RefSeq annotation in the era of big data	S. Pujar
2189	Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs on haplotype-resolved assemblies	T.-Y. Lu
2304	Enlightening the dark matter of the genome: Whole genome imaging identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumor	M. Sabatella
2335	Genome-wide profiling of DNA methylation from a breast cancer and a matched normal cell lines	C. Xioa
2408	Protective effect of 1p36.22 Ewing Sarcoma association locus is conferred by an allele specific GGAA-microsatellite duplication leading to TARDBP overexpression	S. Baulande
2444	TrueXome technology is used for true gene enrichment and pseudogene suppression	P. Song
2906	Identification of VNTR length polymorphism as a driver of local variation in DNA methylation levels	A. Martin
3024	Telomere-to-telomere assembly and complete comparative sequence analysis of the human chromosome 8 centromere	G. A. Logsdon *
3207	Long-read amplicon sequencing detects a bi-allelic SMN1 & SMN2 gene conversion allele that does not guarantee a spinal muscular atrophy (SMA) phenotype	D. Zeevi
3208	Long-read sequencing and optical mapping decipher structural composition of ATXN10 repeat in kindred with spinocerebellar ataxia and Parkinson’s disease	B. Schuele
3287	A new approach to Thalassemia and Ataxia carrier screening panels using CRISPR-Cas9 enrichment and long-read sequencing	Y. Tsai
3305	Clinical application of long-read sequencing technology to neurodevelopmental disorder diagnosis	S. Hiatt *
3448	Identifying novel structural variants at the 17q21.31 MAPT locus in progressive supranuclear palsy using targeted long-read sequencing	H. Walsh
3487	Accurate, comprehensive variant calling in difficult-to-map genes using HiFi reads	W. Rowell *
3494	Capture long-read isoform sequencing (Iso-Seq) for uncovering human isoform diversity in the brain and characterizing SARS-CoV2viral RNAs	T. Hon
3512	Full-length transcript sequencing of human and mouse identifies widespread isoform diversity and alternative splicing in the brain	A. R. Jeffries
3520	High molecular weight DNA extraction and long-read next-generation sequencing of human genomic reference standards	M. Mitchell
3523	High-throughput HiFi library workflow for Human Whole Genome Sequencing on the Sequel II System	S. Chakraborty
3628	Long read sequencing of the SARS-CoV-2 genome and the human immune repertoire	E. Tseng *

#	Title	First Author
1062	A high-resolution panel for uncovering repeat expansions that cause ataxias	Y. Tsai

BOOTH

PacBio will no longer be exhibiting at PAGXXIX, but you can still book a meeting to talk to a PacBio scientist. We are excited to learn about your sequencing goals and learn more about your research!

Booth hours:

Sunday, January 9: 3:00 p.m. – 8:30 p.m.
Monday, January 10: 9:30 a.m. – 5:00 p.m.
Tuesday, January 11: 9:30 a.m. – 3:00 p.m.

PacBio Service Providers

Interested in getting a sequencing project started? Stop by our service providers at PAG to talk about project design and next steps.

	Booth: 211
	Booth: 406
	Booth: 503
	Booth: 523
	Booth: 319
	Booth: 434

WORKSHOP

Accurate & Actionable Genomic Data for Agriculture, Conservation, and Ecology

Speakers

Awesome presentation title that can extend to muliple lines goes here

Awesome presentation title that can extend to muliple lines goes here

Awesome presentation title that can extend to muliple lines goes here

Awesome presentation title that can extend to muliple lines goes here

Pacbio Poster Presentations

Scalable PacBio HiFi Library Prep for High-Quality Genome Assemblies

An Evaluation of Bioinformatics Tools for HiFi Plant Pangenomes

Pacbio Presentations

Awesome and potentially long title of colab talk goest here

Pacbio colab talk

Awesome and potentially long title of colab talk goest here

Presentations + Posters

BOOTH

PacBio Service Providers

Booth: 211

Booth: 406

Booth: 503

Booth: 523

Booth: 319

Booth: 434