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 …
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 …
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). …
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 …
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 …
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 …
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 …
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) (…
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 …
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…
genome and discuss the advances that can now be made with regards to estimating P…