GWAS Stories

ASHG 2024 HIGHLIGHTS

Previewing Notable Talks and Posters

Nov 5, 2024 • 

Veera M. Rajagopal

17

2

October 2024

Genomes vs Exomes

Whole genome sequencing vs whole exome sequencing: which one is cost-effective for gene discovery?

Oct 6, 2024 • 

Veera M. Rajagopal

19

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 • 

Veera M. Rajagopal

19

De novo enhancer creation by a noncoding mutation

Genetic investigation of a cardiac arrhythmia reveals a new noncoding Mendelian disease mechanism

Sep 15, 2024 • 

Veera M. Rajagopal

15

6

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

4

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 • 

Veera M. Rajagopal

9

3

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

2

Genes and transporters

Discovery of the human mitochondrial choline transporter

Jul 21, 2024 • 

Veera M. Rajagopal

11

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

3

Nature's undoing of the curse of Colombian Alzheimer's families

Genetic modifiers of Alzheimer's disease-causing mutations

Jul 7, 2024 • 

Veera M. Rajagopal

10

2

June 2024

Human genetics and drug development

Growing evidence that human genetics can double or even triple drug development success rates

Jun 30, 2024 • 

Veera M. Rajagopal

10

Epstein-Barr Virus and IL27 signaling

Genetic deficiency for IL27 receptor predisposes to EBV infection but protects from EBV-associated cancer

Jun 22, 2024 • 

Veera M. Rajagopal

1