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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.
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.
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.
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.
Uncovering Alzheimer’s Biomarkers
Dr. Lesley Cheng discovers Alzheimer’s biomarkers from small miRNA yields extracted from exosomes or small serum samples.
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.”
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?
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
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.
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
Rapid PGS workflow using next-generation sequencing
Fabien Murisier,
Scientific Director,
Centre for Medically Assisted Procreation (CPMA)
Luis A. Alcaraz,
Director,
Bioarray
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
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
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.
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.
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.
Uncovering Alzheimer’s Biomarkers
Dr. Lesley Cheng discovers Alzheimer’s biomarkers from small miRNA yields extracted from exosomes or small serum samples.
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.”
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?
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
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.
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
Rapid PGS workflow using next-generation sequencing
Fabien Murisier,
Scientific Director,
Centre for Medically Assisted Procreation (CPMA)
Luis A. Alcaraz,
Director,
Bioarray
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
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
Genetic analysis tools help doctors design a life-saving clinical trial for child with end-stage brain cancer
仅供科研使用，不可用于诊断目的。