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Interpretation of Human Genomes And Identification of Impactful Variants Using Biomedical Informatics

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Air date: Wednesday, November 2, 2016, 2:00:00 PM
Time displayed is Eastern Time, Washington DC Local
Views: Total views: 304 (131 Live, 173 On-demand)
Category: Special
Runtime: 01:06:08
Description: National Library of Medicine Informatics Lecture Series

Whole exome and whole genome sequencing is continuing to challenge researchers with a wealth of genetic variants of unknown disease effects. We are investigating genomic and proteomic attributes that describe genetic variants in human genome sequences and then we are using those attributes to predict pathogenic variants that affect protein structure and function, mRNA processing and translation, and transcriptional regulation. To that end, we have built the MutPred suite of tools for discovering and characterizing pathogenic and pharmacogenetic variants from whole genome sequencing. We are applying these tools in collaboration with genetic studies to better understand the causes of human disease, and I will illustrate using examples of both complex and monogenic diseases. Further, we are leveraging the crowd by organizing and participating in community challenges (critical assessments) to build a better understanding of the types of approaches that perform well in genome interpretation and in what context. I will discuss our involvement in two critical assessment communities, the Critical Assessment of Genome Interpretation and the Critical Assessment of Functional Annotation.
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NLM Title: Interpretation of human genomes and identification of impactful variants using biomedical informatics / Sean Mooney.
Author: Mooney, Sean.
National Library of Medicine (U.S.),
Publisher:
Abstract: (CIT): National Library of Medicine Informatics Lecture Series Whole exome and whole genome sequencing is continuing to challenge researchers with a wealth of genetic variants of unknown disease effects. We are investigating genomic and proteomic attributes that describe genetic variants in human genome sequences and then we are using those attributes to predict pathogenic variants that affect protein structure and function, mRNA processing and translation, and transcriptional regulation. To that end, we have built the MutPred suite of tools for discovering and characterizing pathogenic and pharmacogenetic variants from whole genome sequencing. We are applying these tools in collaboration with genetic studies to better understand the causes of human disease, and I will illustrate using examples of both complex and monogenic diseases. Further, we are leveraging the crowd by organizing and participating in community challenges (critical assessments) to build a better understanding of the types of approaches that perform well in genome interpretation and in what context. I will discuss our involvement in two critical assessment communities, the Critical Assessment of Genome Interpretation and the Critical Assessment of Functional Annotation.
Subjects: Genetic Variation
Genome, Human
Medical Informatics
Publication Types: Lecture
Webcast
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Caption Text: Download Caption File
NLM Classification: QU 460
NLM ID: 101697710
CIT Live ID: 20127
Permanent link: https://videocast.nih.gov/watch=20127