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Human genomics

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Human genomics document repository
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Variant phasing for antisense oligonucleotide design using adaptive samplingResearch presentation

Variant phasing for antisense oligonucleotide design using adaptive sampling

Biography Joy Goffena is a Research Scientist in Dr Danny Miller’s lab at the University of Washington. She specializes in applying Oxford Nanopore Technologies sequencing to advance genetic research ...

Targeted adaptive sampling for pharmacogenomics and genome-wide variant analysisResearch presentation

Targeted adaptive sampling for pharmacogenomics and genome-wide variant analysis

Biography Dr Pamela Gan is the Bioinformatics Team Lead at NalaGenetics, whose current primary research focus is developing bioinformatic pipelines and applications for diagnostics and personalized medicine. She holds a ...

Stencilling accessible chromatin fibres reveals haplotype-specific regulationResearch presentation

Stencilling accessible chromatin fibres reveals haplotype-specific regulation

Biography Nick Owens leads an interdisciplinary research group studying gene regulatory defects in disease. He has an undergraduate and PhD in computer science and machine learning, and postdoctoral training studying ...

Single-cell transcriptome sequencingResearch presentation

Single-cell transcriptome sequencing

Abstract Discover an end-to-end solution for single-cell transcriptomics — from library preparation in just three hours to intuitive single-cell analysis with *EPI2ME*.

High-quality T2T assemblies with Oxford Nanopore-only data — a Singaporean case studyResearch presentation

High-quality T2T assemblies with Oxford Nanopore-only data — a Singaporean case study

Biography Prasad Sarashetti, an experienced bioinformatician with a master’s degree in bioinformatics from IIIT Pune, brings over a decade of expertise to the field. Currently serving as a Senior ...

Making genomics education accessible for allResearch presentation

Making genomics education accessible for all

Biography Jason Williams is the Assistant Director at the Cold Spring Harbor Laboratory DNA Learning Center, where he develops national biology education programs. He has trained thousands of students, researchers ...

Long-read sequencing of an advanced cancer cohortResearch presentation

Long-read sequencing of an advanced cancer cohort

Biography Kieran is a bioinformatician staff scientist at Canada’s Michael Smith Genome Sciences Centre. He helps coordinate a range of projects using new sequencing platforms, especially Oxford Nanopore sequencing ...

Long-read sequencing and adaptive sampling solve complex diagnostic conundrumsResearch presentation

Long-read sequencing and adaptive sampling solve complex diagnostic conundrums

Biography Prof. Sebastian Lunke is the Head of Division of Genetics and Genomics at the Victorian Clinical Genetics Services. His team oversees the development and delivery of clinically accredited genetics ...

High-throughput sequencing for complex disease researchResearch presentation

High-throughput sequencing for complex disease research

Abstract** Find out how to generate unprecedented insights in human genomics research, at scale, with our sample-to-answer sequencing workflow, including intuitive data analysis with EPI2ME.

From freezer to findings: Oxford Nanopore sequencing for rare disease researchResearch presentation

From freezer to findings: Oxford Nanopore sequencing for rare disease research

Biography Nathaniel Edisis works with the Children's Rare Disease Research Group at Boston Children’s Hospital, The Manton Center for Orphan Disease Research, and other local scientists to integrate ...

Epitranscriptomics with direct RNA sequencingResearch presentation

Epitranscriptomics with direct RNA sequencing

Abstract Unlock the epitranscriptome with an end-to-end native RNA sequencing workflow, including intuitive analysis with EPI2ME.

Epigenomic classification of acute leukemiaResearch presentation

Epigenomic classification of acute leukemia

Biography Dr Salvatore Benfatto is a postdoctoral researcher at the Dana-Farber Cancer Institute in Boston, Massachusetts. As a computational biologist, he works at the intersection of artificial intelligence and ...

Efficient telomere-to-telomere genome assembly with nanopore reads using hifiasmResearch presentation

Efficient telomere-to-telomere genome assembly with nanopore reads using hifiasm

Biography Haoyu Cheng is an Assistant Professor at the Department of Biomedical Informatics and Data Science (BIDS) at Yale University. His research is dedicated to creating highly efficient computational methodologies ...

Dysregulation of viral and human genomes at HPV integration eventsResearch presentation

Dysregulation of viral and human genomes at HPV integration events

Biography Since 2022, Michelle Ng has been a postdoctoral fellow in the Marra lab at the Michael Smith Laboratories and Canada's Michael Smith Genome Sciences Centre in Vancouver, Canada ...

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