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Human Genetics Research 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.
From CMAP to NMAP: an integrated microarray approach to repositioning drugs for neurodegenerative disorders
David Chambers PhD,
Principal Investigator, Lecturer in Functional Genomics & Drug Discovery, Genomics Drug Discovery Unit, Wolfson Centre for Age-Related Diseases (CARD),
King's College London, UK
Spinal Muscular Atrophy and the difficult SMN1 gene
Spinal Muscular Atrophy (SMA) is the second most common fatal autosomal recessive disorder. The genetic analysis is complicated by highly homologous genes.
Short tandem repeats (STRs) in Fragile X – detection using fragment analysis
Repetitive sequences are highly abundant and can play a role in disease.
Many complex genetic syndromes involve Copy Number Variants (CNVs) which can be identified in a single step using genome-wide microarray analysis.
Clinical Laboratory Geneticist, Clinical Genomics Lund, Sweden
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
Can we enhance the applications of newborn screening with genetic testing in the clinic?
Rebecca Thomas PhD,
Elizabeth Sollers PhD,
Sheffield Children's NHS Foundation Trust, UK
Variant analysis with high-resolution exon-level copy number microarrays in Uppsala, Sweden
Ann-Charlotte Thuresson,
Associate Professor, Clinical Laboratory Geneticist, Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
Rapid PGS workflow using next-generation sequencing
Fabien Murisier,
Scientific Director,
Centre for Medically Assisted Procreation (CPMA)
Luis A. Alcaraz,
Director,
Bioarray
The next generation of the heel prick test? Lessons from Norway.
At the Norwegian National Unit for Newborn Screening in Oslo, Dr. Asbjørg Stray-Pedersen has led a research programme integrating next generation sequencing in newborn screening.
Genomics lab of the future: productivity from digital science
Will Geist,
VP and General Manager,
Thermo Fisher Scientific
FinnGen: a platform for drug target development and precision medicine
Samuli Ripatti,
Professor of Biometry, Dept of Public Health and Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki; Broad Institute of MIT and Harvard, US
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?
Investigating the genetic cause
of epilepsy
Sporadic cases of epilepsy might actually be carried by parents in a mosaic manner. This study identifies rare mosaic alleles using Ion Torrent next generation sequencing of candidate gene panels.
Skeletal muscle disorder causation revealed by next generation sequencing
More than 200 genes have been implicated in the pathogenesis of neuromuscular disorders. This group tackles muscular dystrophy, congenital myopathy, metabolic myopathy and myofibrillar myopathy using four custom designed Ion AmpliSeq gene panels.
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.”
Uncovering Alzheimer’s Biomarkers
Dr. Lesley Cheng discovers Alzheimer’s biomarkers from small miRNA yields extracted from exosomes or small serum samples.
How to combine genomics and health record data
The large FinnGen project combines genome and electronic health record data from 500,000 Finnish participants to study disease mechanisms in chronic disorders.
What’s the state of the art for a modern human genetics services laboratory?
With a technology-agnostic approach, Thermo Fisher Scientific offers different comprehensive solutions for running a service laboratory on the whole human genetic continuum, from preconception to post-natal, including pharmacogenomics and oncology.
Next generation sequencing
Application of NGS to study inherited cardiomyopathy
Inherited disease research app note
Microarray analysis
Scientist spotlight: uncovering the genetics behind autism spectrum disorder
Posters
How can research today improve future cystic fibrosis genetic analysis?
Elizabeth Sollers, PHD
Sheffield Children's NHS Foundation Trust
How can we enhance future newborn NGS testing research in the UK?
Rebecca Thomas
Sheffield Children's NHS Foundation Trust
When it is useful to use NGS for RNA analysis?
Adam Ameur
Associate Professor SciLifeLab, Uppsala University
7 facts about targeted next generation sequencing using Ion AmpliSeq On-Demand Gene Panels
Linnea Nyberg
Field Application Scientist, Thermo Fisher Scientific
Review of Applied Biosystems QuantStudio 6 Pro Real-time PCR System
Mikael Kubista
Head of the TATAA Biocenter
CytoScan XON assay in everyday use in the Netherlands
Nicole De Leeuw
Radboud University Medical Center
CytoScan XON assay in everyday use in Sweden
Lotta Thuresson
Upsalla University Hospital
Interview with Sagi Josefsberg, describing his experiences in deploying the Applied Biosystems CarrierScan 1S solution in Israel
Sagi Josefsberg Ben- Yehoshua
Rector Kaplan Medical Center, Rehovot
From CMAP to NMAP: an integrated microarray approach to repositioning drugs for neurodegenerative disorders
David Chambers PhD,
Principal Investigator, Lecturer in Functional Genomics & Drug Discovery, Genomics Drug Discovery Unit, Wolfson Centre for Age-Related Diseases (CARD),
King's College London, UK
Spinal Muscular Atrophy and the difficult SMN1 gene
Spinal Muscular Atrophy (SMA) is the second most common fatal autosomal recessive disorder. The genetic analysis is complicated by highly homologous genes.
Short tandem repeats (STRs) in Fragile X – detection using fragment analysis
Repetitive sequences are highly abundant and can play a role in disease.
Many complex genetic syndromes involve Copy Number Variants (CNVs) which can be identified in a single step using genome-wide microarray analysis.
Clinical Laboratory Geneticist, Clinical Genomics Lund, Sweden
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
Can we enhance the applications of newborn screening with genetic testing in the clinic?
Rebecca Thomas PhD,
Elizabeth Sollers PhD,
Sheffield Children's NHS Foundation Trust, UK
Variant analysis with high-resolution exon-level copy number microarrays in Uppsala, Sweden
Ann-Charlotte Thuresson,
Associate Professor, Clinical Laboratory Geneticist, Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden
Rapid PGS workflow using next-generation sequencing
Fabien Murisier,
Scientific Director,
Centre for Medically Assisted Procreation (CPMA)
Luis A. Alcaraz,
Director,
Bioarray
The next generation of the heel prick test? Lessons from Norway.
At the Norwegian National Unit for Newborn Screening in Oslo, Dr. Asbjørg Stray-Pedersen has led a research programme integrating next generation sequencing in newborn screening.
Genomics lab of the future: productivity from digital science
Will Geist,
VP and General Manager,
Thermo Fisher Scientific
FinnGen: a platform for drug target development and precision medicine
Samuli Ripatti,
Professor of Biometry, Dept of Public Health and Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki; Broad Institute of MIT and Harvard, US
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?
Investigating the genetic cause
of epilepsy
Sporadic cases of epilepsy might actually be carried by parents in a mosaic manner. This study identifies rare mosaic alleles using Ion Torrent next generation sequencing of candidate gene panels.
Skeletal muscle disorder causation revealed by next generation sequencing
More than 200 genes have been implicated in the pathogenesis of neuromuscular disorders. This group tackles muscular dystrophy, congenital myopathy, metabolic myopathy and myofibrillar myopathy using four custom designed Ion AmpliSeq gene panels.
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.”
Uncovering Alzheimer’s Biomarkers
Dr. Lesley Cheng discovers Alzheimer’s biomarkers from small miRNA yields extracted from exosomes or small serum samples.
How to combine genomics and health record data
The large FinnGen project combines genome and electronic health record data from 500,000 Finnish participants to study disease mechanisms in chronic disorders.
What’s the state of the art for a modern human genetics services laboratory?
With a technology-agnostic approach, Thermo Fisher Scientific offers different comprehensive solutions for running a service laboratory on the whole human genetic continuum, from preconception to post-natal, including pharmacogenomics and oncology.
Next generation sequencing
Application of NGS to study inherited cardiomyopathy
Inherited disease research app note
Microarray analysis
Scientist spotlight: uncovering the genetics behind autism spectrum disorder
Posters
How can research today improve future cystic fibrosis genetic analysis?
Elizabeth Sollers, PHD
Sheffield Children's NHS Foundation Trust
How can we enhance future newborn NGS testing research in the UK?
Rebecca Thomas
Sheffield Children's NHS Foundation Trust
When it is useful to use NGS for RNA analysis?
Adam Ameur
Associate Professor SciLifeLab, Uppsala University
7 facts about targeted next generation sequencing using Ion AmpliSeq On-Demand Gene Panels
Linnea Nyberg
Field Application Scientist, Thermo Fisher Scientific
Review of Applied Biosystems QuantStudio 6 Pro Real-time PCR System
Mikael Kubista
Head of the TATAA Biocenter
CytoScan XON assay in everyday use in the Netherlands
Nicole De Leeuw
Radboud University Medical Center
CytoScan XON assay in everyday use in Sweden
Lotta Thuresson
Upsalla University Hospital
Interview with Sagi Josefsberg, describing his experiences in deploying the Applied Biosystems CarrierScan 1S solution in Israel
Sagi Josefsberg Ben- Yehoshua
Rector Kaplan Medical Center, Rehovot
For Research Use Only. Not for use in diagnostic procedures.