[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes
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 …
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
… 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 …
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
… 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 …
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
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 …
An open resource for accurately benchmarking small variant and reference calls
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 …
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 …
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
… 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 …
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 …
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 …
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 …
mosquito; Arthropoda; Insecta; Diptera; Culicidae), from a wild population in Cameroon. The …