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Human genetics presentations and resources

Stay up to date with new advances in human genetic disease research with access to recent presentations, posters, and literature covering variant discovery from SNPs to genome-wide CNVs and large chromosomal changes, to reproductive health research and gene function analysis.

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The human genetic disease research presentations and videos below cover a diverse collection of topics to help educate you across the spectrum of human genetic disease research techniques including: Mendelian single gene disorders, non-Mendelian diseases, complex multi-factorial genetic diseases, reproductive health research into carrier screening and aneuploidy testing.

Uncovering Alzheimer’s Biomarkers

Dr. Lesley Cheng,
La Trobe University,
Melbourne,
Australia

Read the blog
 

Scaling up genetic analysis projects with NGS

Copenhagen University Hospital Rigshospitalet
“In terms of exome sequencing we're now able to run trios on a single chip, two trios per day.”

Watch customer interview

Applications of targeted gene panels in inherited disease
 

Brian Meyer, PhD,
Chairman, Department of Genetics,
King Faisal Specialist Hospital and Research Centre (KFSHRC)
Robert Sebra, PhD,
Director of Technology Development,
Assistant Professor,
Icahn School of Medicine at Mount Sinai

Watch

Application of targeted next-generation sequencing (NGS) panels in neurodevelopmental disorder research

Alessandra Murgia,
Associated Professor,
Department of Woman and Child Health,
University of Padova, Italy 
Francisco Hernandez-Guzman, 
Senior Product Manager,
Clinical Sequencing Division,
Thermo Fisher Scientific

Watch

Rapid PGS workflow using next-generation sequencing
 

Fabien Murisier, 
Scientific Director,
Centre for Medically Assisted Procreation (CPMA)
Luis A. Alcaraz, 
Director,
Bioarray

Watch

Targeted panels or exome—Which is the right NGS approach for inherited disease research?

Should I use a targeted panel or do exome sequencing? Targeted sequencing has gained popularity in clinical research, but how do you know if this is right for your research needs?

Read the blog
 

Use of ultra-sensitive targeted NGS gene panel to investigate transmission of pathogenic variants from mosaic parents
An investigation of the use of new Ion AmpliSeq HD technology to
rare allele detection.

Line H. G. Larsen
Amplexa Genetics

Read the presentation

CytoScan XON Suite analysis in Lund – –a first impression and
comparison with CytoScan HD Suite

Tord Jonson, PhD
Clinical Laboratory Geneticist, Clinical Genomics Lund, Sweden

Read the presentation

Investigating the genetic cause
of epilepsy

Read the blog
 

Mending a broken heart—one base at a time. Uncovering novel mutations relevant to familial Restrictive Cardiomyopathy

Read the blog

Next-generation sequencing accelerates clinical research of Neuromuscular Disorders

Read the blog

Next generation sequencing

Application of NGS to study inherited cardiomyopathy
Inherited disease research app note

Sanger sequencing

Using Sanger capillary electrophoresis sequencing to confirm variants discovered by next-generation sequencing (NGS)

Microarray analysis

Scientist spotlight: uncovering the genetics behind autism spectrum disorder

The human genetic disease research presentations and videos below cover a diverse collection of topics to help educate you across the spectrum of human genetic disease research techniques including: Mendelian single gene disorders, non-Mendelian diseases, complex multi-factorial genetic diseases, reproductive health research into carrier screening and aneuploidy testing.

Uncovering Alzheimer’s Biomarkers

Dr. Lesley Cheng,
La Trobe University,
Melbourne,
Australia

Read the blog
 

Scaling up genetic analysis projects with NGS

Copenhagen University Hospital Rigshospitalet
“In terms of exome sequencing we're now able to run trios on a single chip, two trios per day.”

Watch customer interview

Applications of targeted gene panels in inherited disease
 

Brian Meyer, PhD,
Chairman, Department of Genetics,
King Faisal Specialist Hospital and Research Centre (KFSHRC)
Robert Sebra, PhD,
Director of Technology Development,
Assistant Professor,
Icahn School of Medicine at Mount Sinai

Watch

Application of targeted next-generation sequencing (NGS) panels in neurodevelopmental disorder research

Alessandra Murgia,
Associated Professor,
Department of Woman and Child Health,
University of Padova, Italy 
Francisco Hernandez-Guzman, 
Senior Product Manager,
Clinical Sequencing Division,
Thermo Fisher Scientific

Watch

Rapid PGS workflow using next-generation sequencing
 

Fabien Murisier, 
Scientific Director,
Centre for Medically Assisted Procreation (CPMA)
Luis A. Alcaraz, 
Director,
Bioarray

Watch

Targeted panels or exome—Which is the right NGS approach for inherited disease research?

Should I use a targeted panel or do exome sequencing? Targeted sequencing has gained popularity in clinical research, but how do you know if this is right for your research needs?

Read the blog
 

Use of ultra-sensitive targeted NGS gene panel to investigate transmission of pathogenic variants from mosaic parents
An investigation of the use of new Ion AmpliSeq HD technology to
rare allele detection.

Line H. G. Larsen
Amplexa Genetics

Read the presentation

CytoScan XON Suite analysis in Lund – –a first impression and
comparison with CytoScan HD Suite

Tord Jonson, PhD
Clinical Laboratory Geneticist, Clinical Genomics Lund, Sweden

Read the presentation

Investigating the genetic cause
of epilepsy

Read the blog
 

Mending a broken heart—one base at a time. Uncovering novel mutations relevant to familial Restrictive Cardiomyopathy

Read the blog

Next-generation sequencing accelerates clinical research of Neuromuscular Disorders

Read the blog

Next generation sequencing

Application of NGS to study inherited cardiomyopathy
Inherited disease research app note

Sanger sequencing

Using Sanger capillary electrophoresis sequencing to confirm variants discovered by next-generation sequencing (NGS)

Microarray analysis

Scientist spotlight: uncovering the genetics behind autism spectrum disorder

For Research Use Only. Not for use in diagnostic procedures.