Webinar Archive

Webinar Archive

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Introducing the iSeq™ 100 Sequencing System—our latest solution for fast and efficient low-throughput sequencing for virtually any lab

Explore our smallest and most cost-effective sequencer ever. Join Bellal Moghis and Gary Schroth as they introduce our newest system—iSeq 100. They’ll walk through installation and also review applications and methods. Find out how you can make the most of your new lab partner.

Bellal Moghis, Senior Product Marketing Illumina and Gary Schroth, Distinguished Scientist Illumina, Illumina
Topic: Sequencing
CosmosID Metagenomics for Public Health, Food/Water Safety, and Epidemiology

With the dramatically increasing amount of sequence data generation and the significant reduction of sequencing costs, rapid, easy, and accurate data analytics becomes the critical bottleneck in adopting next-generation sequencing (NGS) in the public health sector. To this end, CosmosID has developed a cloud-based microbial genomics platform featuring with world’s largest curated genome databases and scaling computational power to keep pace with the ever-increasing amount of data generation. The platform brings together the most comprehensive and ultrafast “sequence to answer” workflow for easy, accurate, and highly resolved profiling of cross-disciplinary microbiome data. In this webinar, various aspects of the platform will be presented with reference to recent studies on water and wastewater treatment, food safety, molecular epidemiology, and multi-kingdom microbiome profiling and characterization. Key technologies that will be showcased include strain-level metagenomics, metatranscriptomics, metagenomic assembly, and molecular sub-typing.

Rita R. Colwell, Ph.D., D.Sc - University of Maryland Institute of Advanced Computer Studies and John Hopkins University Bloomberg School of Public Health, Manoj N. Dadlani, CosmosID
Topic: Microbiology & Infectious Disease : Software
AmpliSeq™ for Illumina®—fast, simple, robust targeted library prep chemistry for Illumina sequencing systems

See what happens when a leading library prep is optimized to run on next-generation sequencing (NGS) systems from Illumina. Join Mitu Chaudhary and Claire White as they present data to demonstrate the robust performance of AmpliSeq for Illumina from a wide variety of sample types.

Mitu Chaudhary, Manager Illumina Core Library Prep Product Marketing and Claire White, Global Product Manager, Illumina Clinical Genomics, Illumina
Topic: Sequencing
High-volume sequence analysis with BaseSpace Sequence Hub and Edico Genome DRAGEN apps

The latest sequencing technologies enable unprecedented throughput and redefine limits for many labs. To adapt, these labs must redefine how they work – by automating tasks to reduce touchpoints and by simplifying workflows with integration and robust analysis tools. In this webinar, we describe BaseSpace™ Sequence Hub and how the newest features support high throughput, high-volume sequencing. We demonstrate how customers can progress from flowcell loading to variant analysis with zero touchpoints by using the Whole Genome Sequencing or Edico Genome DRAGEN apps. Additionally, we describe how the integration with BaseSpace™ Variant Interpreter enables users to interpret and generate reports of identified variants.

Casey Geaney, Senior Product Manager and Ilya Chorny, Associate Director, Product Marketing, Illumina, Rami Mehio, VP of Engineering and Shyamal Mehtalia, Director of Operations, Edico Genome
Topic: Human Genetics & Genetic Disease : Software
Enabling efficient Discovery and Clinical Research in drug response: Application of a targeted Next-Generation Sequencing Assay for Pharmacogenetics

Pharmacogenetic (PGx) testing enables researchers to understand a person’s genetic propensity for a therapeutic response or an adverse reaction to particular medications. Recently the NIH’s Precision Medicine Initiative has begun a nationwide effort to individualize a subject’s treatment program, while the FDA has already included PGx information in over one hundred drug labels. Serious drug reaction events are likely to become more prevalent as more drugs become available and the number of pharmaceuticals each person is taking increases. To understand the occurrence of these events, sequencing genomic regions associated with metabolism of a wide-spectrum of drug classes can help inform clinical researchers, and better characterize the frequency of known and novel haplotypes within validated genes involved in drug metabolism pathways.

In this presentation, we will describe a method and workflow for targeted pharmacogenetic gene sequencing using Kailos’ TargetRichTM PGxComplete assay.

Julie Collens, Associate Director, Market Development, Illumina , Troy Moore, Chief Scientific Officer and Founder, Kailos Genetics
Topic: Sequencing : Diagnostics : Customer
The Yin and Yang of NGS HLA typing

The Webinar Series will feature HLA laboratory directors presenting case studies from samples prepared with TruSight™ HLA, sequenced with Illumina next-generation sequencing (NGS) MiSeq or MiniSeq systems, and analyzed using TruSight HLA Assign software. Presentations will be followed by an interactive question and answer session. 

 

The webinar will offer participants:

  • Advanced sequencing data analysis and data interpretation in Assign software
  • Continuing education in current and relevant topics in Histocompatibility and Immunogenetics
  • An opportunity to share best practices and troubleshooting tips in data analysis and HLA typing by NGS
  • A forum for interaction with other NGS users    
Maria P. Bettinotti, PhD, (ABHI), FACMG, Director, Immunogenetics Laboratory, Johns Hopkins University School of Medicine
Topic: HLA Typing
Next-generation solutions for the next era of sequencing

The latest NovaSeq advancements have arrived—delivering unprecedented scalability and flexibility for next-generation sequencing (NGS). Discover how the S4 flow cell allows you to use the NovaSeq 6000 System to take your research to the next level.

Join Gary Schroth, Illumina Distinguished Scientist, to learn about these latest advancements with the NovaSeq 6000 System. See how the S4 can provide you the highest throughput of any sequencer. Finally, with the new NovaSeq Xp workflow, you can expand your research, giving you more flexibility than ever before.

Gary Schroth and Aboli Rane, Illumina
Topic: Sequencing
NGS HLA Typing for Solid Organ Transplantation: The New Frontier

The Webinar Series will feature HLA laboratory directors presenting case studies from samples prepared with TruSight™ HLA, sequenced with Illumina next-generation sequencing (NGS) MiSeq or MiniSeq systems, and analyzed using TruSight HLA Assign software. Presentations will be followed by an interactive question and answer session.

The webinar will offer participants:

  • Advanced sequencing data analysis and data interpretation in Assign software
  • Continuing education in current and relevant topics in Histocompatibility and Immunogenetics
  • An opportunity to share best practices and troubleshooting tips in data analysis and HLA typing by NGS
  • A forum for interaction with other NGS users
Annette Jackson, PhD, (ABHI), Director, Division of Immunogenetics and Transplantation Immunology, Johns Hopkins University School of Medicine
Topic: HLA Typing
Unambiguous High Resolution HLA typing by Next-Generation Sequencing (NGS): Breakthrough Enhancements and Clinical Research Utility in Solid Organ Transplantation

Dr Dolly Tyan will present on the Stanford Immunogenetics labs’ experience validating TruSight® HLA v2 for NGS HLA typing and validation of automation for TruSight HLA library prep. Dr Tyan will also share a case study to illustrate the utility of NGS HLA typing test results in solid organ transplantation research.

 

This presentation is part of the TruSight HLA Webinars Series which features HLA lab directors presenting case studies from samples prepared with TruSight HLA, sequenced with Illumina next-generation sequencing (NGS) MiSeq® or MiniSeq® systems, and analyzed using TruSight HLA Assign™ software.

Dr Dolly Tyan, Professor of Pathology, Stanford University Medical Center
Topic: HLA Typing
The Effective Implementation of NIPT into a Busy Practice: An Obstetrician Perspective

Medical societies now recommend that all women, regardless of age, be offered screening and diagnostic testing for aneuploidy during pregnancy.1-2 Noninvasive prenatal testing (NIPT) is a newer screening option that utilizes the presence of cell-free DNA in a pregnant woman’s blood originating from the pregnancy. Whole-genome sequencing-based NIPT can screen for common aneuploidies (trisomy 21, trisomy 18, trisomy 13, and certain sex chromosome aneuploidies) with greater accuracy than other available screening modalities, resulting in a significant reduction in false positive rates and, subsequently, potential reduction in invasive procedures in healthy pregnancies.3


In this webinar, Tina Ziainia, MD, FACOG, an Obstetrician-Gynecologist affiliated with Sharp HealthCare, provides insight and expertise on successfully implementing NIPT into a busy practice. Having been in practice for over 17 years and having offered NIPT since 2013, she’ll also discuss prenatal screening options, review the latest ACOG and ACMG screening guidelines, and identify helpful resources for both you and your patients.

 

References: 

1. Practice Bulletin No. 163: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016;127(5):979-981.

2. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016: doi:10.1038/gim.2016.97.
3. Bianchi DW, Rava RP, Sehnert AJ. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;371(6):578.

Tina Ziainia, MD, FACOG, Sharp HealthCare
Topic: Reproductive & Genetic Health
Implementation of HLA Next-Generation Sequencing (NGS) Platform Using Robotics

The Webinar Series will feature HLA laboratory directors presenting case studies from samples prepared with TruSight HLA, sequenced with Illumina next-generation sequencing (NGS) MiSeq or MiniSeqvsystems, and analyzed using TruSight HLA Assign software. Presentations will be followed by an interactive question and answer session.

The webinar will offer participants:

  • Advanced sequencing data analysis and data interpretation in Assign software
  • Continuing education in current and relevant topics in Histocompatibility and Immunogenetics
  • An opportunity to share best practices and troubleshooting tips in data analysis and HLA typing by NGS
  • A forum for interaction with other NGS users

 

Edgar Milford, MD, Director Tissue Typing Lab, Associate Professor, Harvard Medical School, Brigham and Women's Hospital
Topic: HLA Typing
Dissecting the genetic basis of Brugada Syndrome

Brugada Syndrome belongs to a family of rare inherited cardiac disorders that can lead to sudden cardiac death. Rare genetic variants in the SCN5A gene can be identified in ~20%* of cases with Brugada Syndrome, while the genetic basis in the others remains unresolved.

Ongoing studies, combining data from multiple genomic methods, are helping to elucidate the genetic basis of Brugada Syndrome and other complex cardiac disorders with the aim of improving patient care in the future.

Register for the webinar to hear Professor Connie Bezzina present data from her laboratory and ongoing collaborative studies with the Brugada Syndrome Genetics Consortium.

Professor Connie Bezzina, Professor of Molecular Cardiogenetics, Academic Medical Center, University of Amsterdam
Topic: Human Genetics & Genetic Disease
iDTECT Blood, a sample-to-report next-generation sequencing (NGS) solution for precision diagnostics in infectious diseases

This webinar will provide an overview of the development, validation and clinical evaluation of PathoQuest’s iDTECT Blood. This CE IVD test represents an application of NGS-based shotgun metagenomics to the field of infectious disease diagnosis. The test provides microbiologists and clinicians a precision diagnostics tool allowing individualized antimicrobial treatment decisions in patients where current microbiological methods frequently fail to identify a responsible pathogen. Both the sample preparation and the bioinformatic pipeline have been optimized to provide high sensitivity and accuracy and an actionable report. Clinical results from a prospective study recently published in Clinical Microbiology and Infection will also be discussed.

Helene Peyro-Saint-Paul, MD - Chief Medical Officer , PathoQuest
Topic: Human Genetics & Genetic Disease : Microbiology & Infectious Disease
Illumina TruSight HLA Case Study: Implementation of HLA (Human Leukocyte Antigen) typing by Next-Generation Sequencing

The Webinar Series will feature HLA laboratory directors presenting case studies from samples prepared with TruSight HLA, sequenced with Illumina next-generation sequencing (NGS) MiSeq or MiniSeq systems, and analyzed using TruSight HLA Assign software. Presentations will be followed by an interactive question and answer session.

The webinar will offer participants:

  • Advanced sequencing data analysis and data interpretation in Assign software
  • Continuing education in current and relevant topics in Histocompatibility and Immunogenetics
  • An opportunity to share best practices and troubleshooting tips in data analysis and HLA typing by NGS
  • A forum for interaction with other NGS users
Gerald Morris, MD, PhD, Director Immunogenetics & Transplant Lab, UCSD Center for Advanced Laboratory Medicine
Topic: HLA Typing
The Human Microbiome: lessons and challenges in deciphering the microbiota in health and disease

Mechanisms of microbial pathogenicity have been extensively analyzed using a broad spectrum of methods, which are driven largely by the technologies available at that time. As animal experimentation gave way to in vitro methods, specific pathogens were systematically investigated as individual dominant clones and colonizers. With the arrival of next-generation sequencing, microbiomes of very diverse habitats are being described. Thus, the microbiome of newborns versus those of the elderly are now prescribed, also the transition and shift in complexity and specificity of bacteria from the oral cavity through to the gut compared to the skin and respiratory are now cataloged and mapped across communities and in response to stress and stimuli.  This tremendous leap in deciphering the human microbiome has ushered a new era of microbiology in which formidable challenges in establishing the foundation of taxonomy, dynamics and function of the residential microbial communities dominate.  

This talk will present the progress made in metagenomics and the use of largely unassembled sequences in constructing the microbial communities forming the human microbiome. The knowledge assembled from microbial whole genome sequences, and the metabolic traits of the human flora are perhaps the most significant framework for the construction of reference microbiomes that can drive research into how transient pathogens establish in new niches and drive the shift from health to disease. 

Professor Saheer Gharbia , Head of Genomics Research Unit Public Health England
Topic: Human Genetics & Genetic Disease : Microbiology & Infectious Disease
Illumina TruSight HLA Case Study Webinar Series HLA typing of buccal swabs using TruSight HLA

The Webinar Series will feature HLA laboratory directors presenting case studies from samples prepared with TruSight HLA , sequenced with Illumina next-generation sequencing (NGS) MiSeq or MiniSeq systems, and analyzed using TruSight HLA Assign software.

Eric T. Weimer, PhD, D (ABMLI), University of North Carolina at Chapel Hill School of Medicine
Topic: HLA Typing
See the NovaSeq Series in action

Discover a new era of sequencing with the NovaSeq Series. Join us for a live webinar event to see firsthand how we are redefining what is possible with high-throughput sequencing. Built from the ground up to fulfill your scientific visions, the NovaSeq Series gives you the flexibility and scalability to complete projects faster and more economically than ever before across a broad range of applications.

Webinar at a glance

  • Overview of instrument and consumables
  • Demonstration from run setup through data analysis
  • Data analysis using BaseSpace® Sequence Hub
Brian Steffy, David Miller, and Aboli Rane, Illumina
Topic: Sequencing
Partnering Big Data Solutions from Illumina and Elsevier: Combining Genomic and Literature Data-Driven Analysis

Illumina BaseSpace Correlation Engine and the Elsevier Pathway Studio are two separate big data mining solutions for two different and highly complementary data problems: unlocking the molecular findings in the ever-growing genomic data repositories and staying up to date on the latest domain-specific scientific literature at the same time. Correlation Engine lets you query a repository of more than 128,000 experimental gene signatures as well as computed disease, compound, and genetic perturbation signatures. Pathway Studio gives you access to one of the world’s largest automatically curated literature databases, updated weekly, and generated using its proprietary NLP MedScan technology.

Joe Delaney Manager, Scientific Research Illumina , Chris Cheadle, Director of Genomics Research Elsevier
Topic: Informatics
The Future Reimbursement Environment for NGS for Oncology

Next-generation sequencing (NGS) is providing new tools to that are aimed at developing products to comprehensively profile cancer samples. However, as with any truly novel technology, payers likely will question the clinical utility of NGS and scrutinize testing coverage. Join us to hear Charles Mathews, Vice President of Boston Healthcare, review how reimbursement is likely to play out in the future for key applications of NGS technology in the oncology space. 

Charles Mathews, Vice President, Boston Healthcare
Topic: Cancer Genomics
Emerging methods: Driving transcriptome and epigenetics discovery with RNA-Seq and Methyl-Seq

As researchers seek to understand how the transcriptome shapes biology, RNA-Seq is
becoming recognized as one of the most significant and powerful tools in modern science. With RNA-Seq, researchers can detect the fine architecture of the transcriptome, such as transcript isoforms, gene fusions, single nucleotide variants, and other features—without prior knowledge. In addition to RNA-Seq, methylation sequencing can provide insights into the regulation of RNA and the temporal and spatial expression of gene products. By combining both RNA and methylation sequencing, researchers who study complex disease, cancer, and other biological systems will have a more complete picture of the transcriptome and its underlying regulatory features.

In this live webinar, we discuss the RNA-Seq and Methyl-Seq workflows that can help researchers drive breakthroughs and understanding in the area of gene expression and gene regulation. Join our gene expression and methylation experts as they review how researchers are driving discovery and learn how our workflows can help your lab leverage the power of next-generation sequencing.

Fraz Syed, Market Manager & Britt Flaherty, PhD, Sr. Sales Specialist, Illumina
Topic: Human Genetics & Genetic Disease : Sequencing
The Power of a Whole-Genome Sequencing Assay for Noninvasive Prenatal Testing

It is important for health care professionals who offer noninvasive prenatal testing (NIPT) to understand the advantages and disadvantages of various assays currently used for NIPT. During this webinar, Dr Yuval Yaron will provide insight on the unique features of a whole-genome sequencing (WGS) approach for NIPT. He will review recent clinical experience data, discuss the impact of NIPT test failures, and review quality metrics that are utilized to analyze and report NIPT results.

Prof. Yuval Yaron , Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center
Topic: Reproductive & Genetic Health
Detecting somatic mutations in neurological disorders with targeted NGS

Join Dr. Jamuar as he discusses the optimal technique for the detection of somatic mosaicism. He’ll evaluate the limitations of Sanger sequencing and highlight the advantages of targeted next-generation sequencing (NGS), sharing findings from his paper, Somatic Mutations in Cerebral Cortical Malformations, which was published in the New England Journal of Medicine.

Webinar at a glance:

  • Learn about somatic mutations and threshold of detection. 
  • Understand the prevalence of somatic mutations in neurodevelopmental disease.
  • Evaluate an optimal technique for somatic mosaicism detection
    • Limitations of Sanger sequencing
    • Advantages of targeted NGS 
Dr. Saumya Jamuar, Consultant, Genetics Service, KK Women's and Children's Hospital, Singapore
Topic: Cancer Genomics : Human Genetics & Genetic Disease : Sequencing
Metagenomic Applications for Microbiome-Related Studies of Complex Disease

Dr. Petrosino is exploring the comprehensive taxonomic and functional changes in the microbiome between birth and Type-1 Diabetes onset in over 22,000 samples from 820 cases and controls (1:1 match) in the TEDDY (The Environmental Determinants of Diabetes in the Young) international prospective cohort.

Advanced analyses of 16S rRNA gene, and bacterial/viral metagenomic data will be presented in this webinar. 

 

Joe Petrosino, PhD, Associate Professor, Baylor College of Medicine
Topic: Human Genetics & Genetic Disease : Microbiology & Infectious Disease
Next-Generation Sequencing - An Introduction

Today’s complex genomic research questions demand a depth of information beyond the capabilities of traditional DNA sequencing technologies. Next-generation sequencing (NGS) has rapidly been adopted as an important research tool, enabling previously unanswered questions to be addressed. 

Illumina next-generation sequencing utilizes a fundamentally different approach from the classic Sanger chain-termination method. It leverages sequencing by synthesis (SBS) technology – tracking the addition of labelled nucleotides as the DNA chain is copied – in a massively parallel fashion.

Watch our on demand webinar to find out more on how NGS can help you gain greater insight from your studies, save time, and be more confident in your results.

Tim Watts, Sr. Marketing Specialist, Illumina, EMEA
Topic: Sequencing
RNA-Seq to impact future Colorectal Cancer (CRC) Treatment

Recent studies on colorectal cancer (CRC) have elucidated four CRC consensus molecular subtypes with potential to predict outcome and stratify patients for therapy. Oncogenomics research by Enzo Medico, MD, PhD, from Candiolo Cancer Institute in Torino, describes how his laboratory is using integrative genomic techniques in cancer research to transform the future of CRC therapy.

Enzo Medico, MD, PhD, Associate Professor, University of Torino, School of Medicine, Candiolo Cancer Institute
Topic: Cancer Genomics
Development and Validation of Automated Methods for Metagenomic Analyses

Next Generation Sequencing (NGS) methods are arguably responsible for the establishment of the field of metagenomics. Significantly lower nucleic acid input requirements have made it possible to sample microbial communities that would have been deemed undetectable just a few years ago. In addition to technological advancements, the continued decline in the cost of sequencing has made it feasible to survey the thousands of samples necessary for metagenomic analyses. To meet the throughput demands of these studies, we have automated NGS sample processing methods from nucleic acid extraction, through library normalization, and pooling.

Here, we will present automated methods for 16S rDNA amplicon and whole genome shotgun sequencing as well as discuss the impact of automation on quality. The resulting sequencing reads from both approaches were compared for quality metrics using our standard quality matrix (Q30, Cluster Density, number of mapped reads, etc.)

Subsequently, sequencing reads were used for taxonomic identification and a comparative analysis. Although both automated methods offer a significant benefit in throughput, we found the reduction in the risk of human error far outweighs all other benefits. Furthermore, utilization of automated liquid handling reduces the risk of contamination.

Russell Carmical, PhD, Assistant Professor, Baylor College of Medicine
Topic: Microbiology & Infectious Disease
A core facility case study: Transitioning from the HiSeq 2500 System to the HiSeq 4000 System

Learn how the UCSF Center for Advanced Technology transitioned from the HiSeq 2500 System to the HiSeq 4000 System. Eric Chow, PhD will highlight some of the current projects that they are running on the HiSeq 4000 System, such as the metagenomic analysis of complex samples, ATAC-seq, and CRISPR screens. Discover how the HiSeq 4000 System delivers cost-effective sequencing for a multitude of library types.

Eric Chow, PhD, Director, Center for Advanced Technology, UCSF
Topic: Sequencing
Introduction to BaseSpace Variant Interpreter and an overview of the workflow

Simplifying and Expediting Genomic Workflows with Integrated Informatics.

Until now, managing, analyzing, and interpreting genomic data has been an arduous process that required disparate data systems and the need to assemble a diverse set of software applications.

In this succinct webinar, we address how BaseSpace Variant Interpreter, the newest member of the BaseSpace Informatics Suite, can help clinical research labs quickly identify, annotate, and classify disease-relevant variants and summarize significant findings in one report. Integrated with BaseSpace Sequence Hub, BaseSpace Variant Interpreter enables rapid extraction to biological insight while increasing a genomic clinical research lab’s operational efficiency with a scalable secure solution.

This webinar is part of a series exploring BaseSpace Informatics Suite. Details of additional events will be presented during the webinar.

Rebecca Hemenway, M.S. Sr. Product Manager. Donavan Cheng, Ph.D. Director, Bioinformatics., Illumina
Topic: Informatics
BaseSpace Suite: Overview of BaseSpace Clarity LIMS and BaseSpace Sequence Hub

Join us as we walk through two of the applications of BaseSpace Informatics Suite, the integrated informatics solution to enable genomic research and the future of precision medicine. Andrew and Jill will show you how to simplify and expedite genomic workflows with integrated informatics using both BaseSpace Clarity LIMS and BaseSpace Sequence Hub.

Webinar at a glance:

  • Description of BaseSpace Suite components
  • Demonstration of BaseSpace Clarity LIMS for wet lab management and automation
  • Demonstration of BaseSpace Sequence Hub for genomic data storage and analysis

Integration of the two applications

Andrew LeBeau and Jill Hesse, Illumina, Inc.
Topic: 
HiSeq 3000/HiSeq 4000 Systems Live Demo – High-Throughput Solutions for a Broad Range of Applications
Abstract:  
The HiSeq 3000 and 4000 Sytems have set a new standard in high-throughput genomics by extending the power of patterned flow cell technology for a broad range of applications. In a live demonstration, Dr. Godinez will provide a comprehensive overview of the exome sequencing workflow. 

Output:
  • Process more samples per run or increase coverage depth per sample
  • Complete large projects with fewer runs
  • Accelerate large-scale studies
Price:
  • Reduced price per sample for a broad of range of applications
  • Rapid, cost-effective, large-scale sequencing
Throughput/Speed:
  • Increased daily throughput
  • Complete Exome runs (2x75bp) in less than 2 days
Comprehensive solution:
  • Wide array of library prep solutions, including 2 new exome offerings, support a broad array of applications
  • Analysis solutions available in BaseSpace® Sequence Hub
Topic: Sequencing
STAT-Seq: Rapid WGS on the HiSeq 2500 - Implications for a Neonatal Intensive Care Unit

Monogenic diseases are frequent causes of neonatal morbidity and mortality. Over 3,500 monogenic diseases have been characterized, many of which feature clinical and genetic heterogeneity. Since disease presentation at birth is often undifferentiated, there is an immense need for molecular diagnosis in infants. Disease progression in newborns is often fast and heterogeneous, so molecular diagnosis must occur rapidly for relevant clinical decision making. Here, we describe 50-hour differential diagnosis of genetic disorders by whole genome sequencing (WGS), featuring substantially automated bioinformatic analysis. This is intended to be a prototype for deployment in neonatal intensive care units.

Topic: Sequencing