[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes

…, DU Gorkin, M Gujral, V Guryev, WH Heaton… - Nature …, 2019 - nature.com
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a suite …

Souporcell: robust clustering of single-cell RNA-seq data by genotype without reference genotypes

H Heaton, AM Talman, A Knights, M Imaz, DJ Gaffney… - Nature …, 2020 - nature.com
… In this case, the variant will not segregate into distinct allele frequencies between different
clusters and will most likely not attain a value close to the standard allele frequencies …

The Malaria Cell Atlas: Single parasite transcriptomes across the complete Plasmodium life cycle

VM Howick, AJC Russell, T Andrews, H Heaton… - Science, 2019 - science.org
… with immense genetic diversity will advance the study of the pathology and transmission of
malaria directly from infected carriers. We envision that the Malaria Cell Atlas will support the …

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

SB Kingan, H Heaton, J Cudini, CC Lambert… - 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 …

An open resource for accurately benchmarking small variant and reference calls

…, ND Olson, J Wagner, H Parikh, H Heaton… - Nature …, 2019 - nature.com
Benchmark small variant calls are required for developing, optimizing and assessing the
performance of sequencing and bioinformatics methods. Here, as part of the Genome in a …

Resolving the full spectrum of human genome variation using Linked-Reads

…, A Fehr, IT Fiddes, B Galvin, H Heaton… - Genome …, 2019 - genome.cshlp.org
Large-scale population analyses coupled with advances in technology have demonstrated
that the human genome is more diverse than originally thought. To date, this diversity has …

Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materials

JM Zook, J McDaniel, H Parikh, H Heaton, SA Irvine… - BioRxiv, 2018 - biorxiv.org
… We do not expect this to affect recall and precision but will be fixed in future versions. … One
important limitation of high-confidence callsets like ours is that they will tend to exclude more …

[HTML][HTML] The genome sequence of the malaria mosquito, Anopheles funestus, Giles, 1900

…, P Kengne, H Johnson, H Heaton… - Wellcome Open …, 2022 - ncbi.nlm.nih.gov
We present a genome assembly from an individual female Anopheles funestus (the malaria
mosquito; Arthropoda; Insecta; Diptera; Culicidae). The genome sequence is 251 …

[PDF][PDF] Algorithm Development for Single Cell Data and Genomics

H Heaton - wheaton5.github.io
… lab, my lab will not be generating our own data. I will have a mixture of projects, some of
which will be purely method development and rely on public data, and others will be part of …

[HTML][HTML] A chromosomal reference genome sequence for the malaria mosquito, Anopheles moucheti, Evans, 1925

…, JP Agbor, D Ayala, HF Johnson, H Heaton… - Wellcome Open …, 2023 - ncbi.nlm.nih.gov
We present a genome assembly from an individual male Anopheles moucheti (the malaria
mosquito; Arthropoda; Insecta; Diptera; Culicidae), from a wild population in Cameroon. The …