User profiles for William J Rowell
William J RowellSr. Staff Scientist, Pacific Biosciences Verified email at pacificbiosciences.com Cited by 2650 |
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
The DNA sequencing technologies in use today produce either highly accurate short reads
or less-accurate long reads. We report the optimization of circular consensus sequencing (…
or less-accurate long reads. We report the optimization of circular consensus sequencing (…
Mushroom body output neurons encode valence and guide memory-based action selection in Drosophila
10.7554/eLife.04580.001 Animals discriminate stimuli, learn their predictive value and use
this knowledge to modify their behavior. In Drosophila, the mushroom body (MB) plays a key …
this knowledge to modify their behavior. In Drosophila, the mushroom body (MB) plays a key …
Curated variation benchmarks for challenging medically relevant autosomal genes
The repetitive nature and complexity of some medically relevant genes poses a challenge
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates
long (10–25 kilobases), accurate ‘HiFi’ reads by combining serial observations of a DNA …
long (10–25 kilobases), accurate ‘HiFi’ reads by combining serial observations of a DNA …
[PDF][PDF] Benchmarking challenging small variants with linked and long reads
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines
and develop variant calling and sequencing methods. Here we use accurate linked and …
and develop variant calling and sequencing methods. Here we use accurate linked and …
[HTML][HTML] Immunity regulatory DNAs share common organizational features in Drosophila
Infection results in the rapid activation of immunity genes in the Drosophila fat body. Two
classes of transcription factors have been implicated in this process: the REL-containing …
classes of transcription factors have been implicated in this process: the REL-containing …
Characterization and visualization of tandem repeats at genome scale
…, G De Sena Brandine, T Mokveld, WJ Rowell… - Nature …, 2024 - nature.com
Tandem repeat (TR) variation is associated with gene expression changes and numerous
rare monogenic diseases. Although long-read sequencing provides accurate full-length …
rare monogenic diseases. Although long-read sequencing provides accurate full-length …
[HTML][HTML] Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes
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
…, C Lambert, S Chakraborty, P Baybayan, WJ Rowell… - 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 …
[PDF][PDF] A population of descending neurons that regulates the flight motor of Drosophila
Similar to many insect species, Drosophila melanogaster is capable of maintaining a stable
flight trajectory for periods lasting up to several hours. Because aerodynamic torque is …
flight trajectory for periods lasting up to several hours. Because aerodynamic torque is …