Discovering the Genomic Bases of Mendelian Disease - Roderick McInnes
Genome Sequencing Program Update: Disease 2020 - Adam Felsenfeld
The Search for Mendelian Disease Genes: Opportunities Afforded, Lessons Learned - David Valle (2014)
MPG Primer: Insights from the study of the genetic basis of Mendelian disease (2018)
Reading Genomes to Unlock the Secrets of Brain Disorders: Dr. Eric Lander
Common Disease Genetic Discovery:Successes, Challenges - Jonathan Haines
ASHG 2010 Mtg.: "Discovery of a Gene for Kabuki Syndrome by Exome Sequencing" (Mark Hannibal)
MPG Primer: Genetics in Mendelian Human Disease (2016)
Detection and Diagnosis of Mendelian and Undiagnosed Diseases
Genetic Variation and Disease ~Direct-to-Consumer Genetic Testing~ (23andMe)
Keynote: Genomic Variation and the Inherited Basis of Common Disease - David Altshuler - ISMB 2010
Identifying the Genomic Basis of Rare Diseases - David Valle (2016)
From Mendelian to Common Disease Genomics
Increasing Solve Rates in Rare and Mendelian Disease Research with Long-Read Sequencing
Discovering Variants Conferring Risk for Common Diseases - Michael Boehnke
Genomic Variation and the Inherited Basis of Common Disease
You've Been Lied To About Genetics
Unlocking the Genome with Long-Read Sequencing in Genetic Disease Research
Clinical Gene Discovery - Katherine Rauen
Curing Disease With Genetics And AI