Real-time DNA sequencing from single polymerase molecules

…, J Lyle, G Otto, P Peluso, D Rank, P Baybayan… - Science, 2009 - science.org
We present single-molecule, real-time sequencing data obtained from a DNA polymerase
performing uninterrupted template-directed synthesis using four distinguishable fluorescently …

[HTML][HTML] Accurate whole human genome sequencing using reversible terminator chemistry

…, IR Bancarz, S Banerjee, SG Barbour, PA Baybayan… - nature, 2008 - nature.com
DNA sequence information underpins genetic research, enabling discoveries of important
biological or medical benefit. Sequencing projects have traditionally used long (400–800 …

Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome

…, RM Hughes-Benzie, A MacKenzie, P Baybayan… - Nature …, 1996 - nature.com
… We hypothesized that she was affected by the X-linked SGBS rather than BWS on 11 p, and
decided to map the breakpoint in an existing YAC contig assembled across Xq26 (ref. 12). …

X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

…, F Munoz, D Morgan, A Clarke, P Baybayan… - Nature …, 1996 - nature.com
Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X–linked
anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat …

[HTML][HTML] A High-Quality De novo Genome Assembly from a Single Mosquito Using PacBio Sequencing

…, H Heaton, J Cudini, CC Lambert, P Baybayan… - Genes, 2019 - mdpi.com
A high-quality reference genome is a fundamental resource for functional genetics, comparative
genomics, and population genomics, and is increasingly important for conservation …

[HTML][HTML] Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes

…, JT Anderson, L Bansal, L Bartik, P Baybayan… - Genetics in …, 2022 - Elsevier
Purpose This study aimed to provide comprehensive diagnostic and candidate analyses in
a pediatric rare disease cohort through the Genomic Answers for Kids program. Methods …

[HTML][HTML] Comprehensive de novo mutation discovery with HiFi long-read sequencing

…, AM Wenger, C Lambert, S Chakraborty, P Baybayan… - Genome Medicine, 2023 - Springer
Background Long-read sequencing (LRS) techniques have been very successful in identifying
structural variants (SVs). However, the high error rate of LRS made the detection of small …

Burkholderia pseudomallei sequencing identifies genomic clades with distinct recombination, accessory, and epigenetic profiles

…, I Beacham, I Peak, J Harting, P Baybayan… - Genome …, 2015 - genome.cshlp.org
… trafficking and secretion pathways (corrected P = 0.0006, binomial test), whereas genes
involved in protein translation were underrepresented (corrected P = 0.012, binomial test) (…

Sequence and annotation of 42 cannabis genomes reveals extensive copy number variation in cannabinoid synthesis and pathogen resistance genes

…, B Liu, Z Eaton, S McLaughlin, S Kingan, P Baybayan… - BioRxiv, 2020 - biorxiv.org
Cannabis is a diverse and polymorphic species. To better understand cannabinoid synthesis
inheritance and its impact on pathogen resistance, we shotgun sequenced and assembled …

Complete telomere-to-telomere de novo assembly of the Plasmodium falciparum genome through long-read (>11 kb), single molecule …

…, M Nattestad, MC Schatz, P Baybayan… - DNA …, 2016 - academic.oup.com
… The resulting sequences were assembled de novo into a highly accurate P. … P. falciparum
genome and discuss the advances that can now be made with regards to estimating P