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ASHG 2024 HIGHLIGHTS

Genomes vs Exomes

Discovery of a major genetic risk factor for stroke in South Asians

De novo enhancer creation by a noncoding mutation

Discovery of TMEFF1, a viral restriction factor in the human brain

The Big tau: A new hope for Alzheimer's?

How a jumping gene shaped the human skin color evolution

Genes and transporters

A noncoding RNA gene will solve genetic diagnoses for thousands

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

Human genetics and drug development

Epstein-Barr Virus and IL27 signaling

RAB32, a new Parkinson's gene

Of Mice and Men

Time travel inside Huntington's brain

Insights from sequencing nearly a million exomes

The world's largest database of human knockouts

Genetics of British Pakistanis

Solving a 25-year-old genetic puzzle

A rare disease solves the mystery of a common drug

A receptor meets its ligand through human genetics

The cost of waking a gene up from its eternal sleep

Discovery of a new obesity gene--Bassoon

A non-coding mutation linked to extreme obesity

The underappreciated role of rare disease in drug development

A common trick that drove some of the early human genetic discoveries

Decoding the FTO genetic puzzle

Insights from a deep dive into the genetics of Lp(a)

De-risking drugs using genetics

February 2024 human genetics roundup

Null mutations in interferon genes in Polynesia

Looking back at a failed drug pipeline through the lens of human genetics

A master class on human genetics and drug development

In pursuit of recessive genes

January 2024 human genetics roundup

Let's talk about CNVs

First case reports of cadaver-to-human transmission of Alzheimer's disease

A gene x gene interaction study of alcohol behavior in East Asians

Human beliefs activate neural circuits in a dose-dependent manner

MSH3, a promising drug target for Huntington's disease

Lactase persistence, milk intake and type 2 diabetes risk

A peek into the enigmatic universe of noncoding mutations

A deep dive into the dark regions of the human genome

Probing the origins of indirect genetic effects

MAP3K15 and type 2 diabetes

Evolution of a minimal cell

A new drug target for Alzheimer's

GDF15 and hyperemesis gravidarum

2023 roundup of human genetics