Discovering mechanisms of human genetic variation and controlling ...

Population-scale sequencing efforts have catalogued substantial genetic variation in humans such that variant discovery dramatically ...

The diverse mechanisms of pathogenic (or otherwise clinically relevant) variants are hidden from single-gene reporter assays, the output of ...

Discovering mechanisms of human genetic variation and controlling ...

We discuss how single-cell sequencing is poised to reveal genetic mechanisms at a rate that may soon approach that of variant discovery.

Discovering mechanisms of human genetic variation and controlling ...

As a result, we can construct deep phenotypic atlases of variant effects that span the entire regulatory cascade. The same conceptual approach ...

Discovering mechanisms of human genetic variation and controlling ...

There is remarkable genetic diversity throughout the human population, but variant interpretation lags far behind discovery. As a result, most genetic ...

Discovering mechanisms of human genetic variation and controlling ...

Download Citation | On Apr 23, 2024, Max Frenkel and others published Discovering mechanisms of human genetic variation and controlling cell states at scale ...

Discovering mechanisms of human genetic variation and controlling ...

Abstract Population-scale sequencing efforts have catalogued substantial genetic variation in humans such that variant discovery dramatically outpaces ...

Discovering mechanisms of human genetic variation and controlling ...

TL;DR: It is discussed how single-cell sequencing is poised to reveal genetic mechanisms at a rate that may soon approach that of variant discovery, ...

Understanding Human Genetic Variation - NCBI

But our interest in human genetics does not stop at the boundaries of the species, for what we learn about human genetic variation and its sources and ...

Uncovering Mechanisms of Evolutionary Adaptation to Infectious ...

As genetic variants conferring resistance to infectious diseases spread through human populations over time through natural selection, they leave distinctive, ...

Discovering mechanisms of human genetic variation and controlling ...

Discovering mechanisms of human genetic variation and controlling cell states at scale ; Journal: Trends in Genetics, 2024, № 7, p. 587-600 ; Publisher: Elsevier ...

Discovery of genomic variation across a generation - Oxford Academic

Types of variation found in the human genome and the primary technologies used to detect them (43). The types of variation, and various (sometimes synonymous) ...

Copy Number Variation and Genetic Disease - Nature

By that time, the Human Genome Project and advances in genotyping provided the tools necessary to investigate variations in gene copy numbers on a ...

Broad scientists join new consortium studying the function of genetic ...

Yet, deciphering the genome is challenging, and direct causal relationships between genetic variants, their effects on regulatory elements, and ...

Advancing drug discovery using the power of the human genome

An approach used in genetics research to associate genetic variations with disease risk. The method involves scanning the genomes from many ...

Insights into human genetic variation and population history from ...

The discovery of substantial amounts of common genetic variation that was previously undocumented and is geographically restricted highlights ...

NHGRI History and Timeline of Events

September 2002: Gene discovery by an international team of researchers led by the National Human Genome Research Institute, reveals the cause for a rare form of ...

Studies on the functional consequences of variants - EMBL-EBI

Functional genetic variation studies aim to understand the molecular mechanisms and pathways that link genotype to phenotype. ... Human genetic variation: ...

Genetics Basics | Genomics and Your Health - CDC

Better understanding of how genes affect health can improve health in many ways. Knowing if someone has a genetic difference that makes them ...

Genetic Discovery - Florez Lab

The sequencing of the human genome, the characterization of the patterns of human genetic variation, and technological and methodological advances in ...