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ASHG 2024 HIGHLIGHTS
Previewing Notable Talks and Posters
Nov 5, 2024
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Veera M. Rajagopal
16
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ASHG 2024 HIGHLIGHTS
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October 2024
Genomes vs Exomes
Whole genome sequencing vs whole exome sequencing: which one is cost-effective for gene discovery?
Oct 6, 2024
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Veera M. Rajagopal
19
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Genomes vs Exomes
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September 2024
Discovery of a major genetic risk factor for stroke in South Asians
Exome sequencing of 75k Pakistanis identifies a NOTCH3 genetic variant, accounting for 1-2% of strokes in South Asians
Sep 22, 2024
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Veera M. Rajagopal
19
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Discovery of a major genetic risk factor for stroke in South Asians
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De novo enhancer creation by a noncoding mutation
Genetic investigation of a cardiac arrhythmia reveals a new noncoding Mendelian disease mechanism
Sep 15, 2024
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Veera M. Rajagopal
15
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De novo enhancer creation by a noncoding mutation
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August 2024
Discovery of TMEFF1, a viral restriction factor in the human brain
Exome sequencing of individuals with herpes simplex viral encephalitis identifies a new genetic mechanism through which neurons resist viral infections
Aug 18, 2024
•
Veera M. Rajagopal
13
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Discovery of TMEFF1, a viral restriction factor in the human brain
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The Big tau: A new hope for Alzheimer's?
An overlooked tau isoform may hold the key to an effective Alzheimer's drug
Aug 4, 2024
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Veera M. Rajagopal
9
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The Big tau: A new hope for Alzheimer's?
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July 2024
How a jumping gene shaped the human skin color evolution
Two separate transposition events within ASIP, encoding agouti protein, have influenced the skin color changes during human evolution
Jul 28, 2024
•
Veera M. Rajagopal
17
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How a jumping gene shaped the human skin color evolution
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Genes and transporters
Discovery of the human mitochondrial choline transporter
Jul 21, 2024
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Veera M. Rajagopal
11
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Genes and transporters
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A noncoding RNA gene will solve genetic diagnoses for thousands
Whole genome sequencing discovers a small nuclear RNA gene RNU4-2 as one of the most frequent causes of neurodevelopmental disorders
Jul 13, 2024
•
Veera M. Rajagopal
23
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A noncoding RNA gene will solve genetic diagnoses for thousands
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Nature's undoing of the curse of Colombian Alzheimer's families
Genetic modifiers of Alzheimer's disease-causing mutations
Jul 7, 2024
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Veera M. Rajagopal
10
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Nature's undoing of the curse of Colombian Alzheimer's families
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June 2024
Human genetics and drug development
Growing evidence that human genetics can double or even triple drug development success rates
Jun 30, 2024
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Veera M. Rajagopal
10
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Human genetics and drug development
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Epstein-Barr Virus and IL27 signaling
Genetic deficiency for IL27 receptor predisposes to EBV infection but protects from EBV-associated cancer
Jun 22, 2024
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Veera M. Rajagopal
1
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Epstein-Barr Virus and IL27 signaling
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