Brochure|Human Genetics | Genetics

Benchmark of computational methods to detect digenism in sequencing data

2025-04-10 - 2025-04

Digenic inheritance is characterized by the combined alteration of two different genes leading to a disease. It could explain the etiology of many currently undiagnosed rare diseases. With the advent of next-generation sequencing technologies, the identification of digenic inheritance patterns has become more technically feasible, yet still poses significant challenges without any gold standard method. Here, we present a comprehensive overview of the existing methods developed to detect digenic inheritance in sequencing data and provide a classification in cohort-based and individual-based methods. The latter category of methods appeared the most applicable to rare diseases, especially the ones not needing patient phenotypic description as input. We discuss the availability of the different methods, their output and scalability to inform potential users. Focusing on methods to detect digenic inheritance in the case of very rare or heterogeneous diseases, we propose a benchmark using different real-life scenarios involving known digenic and putative neutral pairs of genes.

Genome study: 180 million genetic variants found in 9,772 individuals

2025-04-09 - 2025-04

Preliminary findings of the GenomeIndia project, which genotyped 10,074 healthy and unrelated Indians from 85 populations — 32 tribal and 53 non-tribal populations — across India, were published in the journal Nature Genetics on Tuesday (April 8, 2025). Blood samples were collected from about 20,000 individuals, of which DNA samples from 10,074 individuals were subjected to whole genome sequencing.

11-minute video on human genetics can make people more accepting of others, reveals new study

2025-04-04 - 2025-04

Want to make the world a friendlier place It could be as simple as watching a short video. A recent study in the European Journal of Social Psychology found that an 11-minute clip about our shared genetic heritage can make people more accepting of those from different countries. It's a quick but powerful way to reduce prejudice and foster a sense of global unity.

Skeletons from ‘green Sahara’ offer genetic peek at a lost human population

2025-04-02 - 2025-04

Today, the Sahara Desert is a sea of sand, but 7000 years ago it was a lush savanna full of hippos, crocodiles, elephants, and giraffes. During a humid, monsoon-heavy interval that spanned more than 5 millennia, people hunted, fished, and eventually herded livestock in a landscape now covered by shifting dunes.

But who were they? Many archaeologists believed migrants from south of the Sahara mingled there with people from the Mediterranean. But the idea was hard to test: The hot, dry conditions that have dominated the Sahara since then have left little DNA preserved in ancient bones. Now, a team of geneticists and archaeologists has at last succeeded in gleaning genetic data from early Saharans: two women buried in a cave in southern Libya. “It’s the first time ancient genomes have come out from anywhere in the Sahara,” says University of ?Oxford archaeologist Peter Mitchell. “It’s very exciting.”

Reassessment of FBN1 variants of uncertain significance using updated ClinGen guidance for PP1/BS4 and PP4 criteria

2025-04-02 - 2025-04

Marfan syndrome (MFS) is a genetic disorder caused by an FBN1 variant and is diagnosed based on the revised Ghent criteria, which incorporate clinical manifestations and genetic testing. Up-to-date FBN1 variant interpretation is crucial for proper diagnosis and management of MFS; however, some FBN1 variants of uncertain significance (VUSs) remain inconclusive despite applying Clinical Genome Resource (ClinGen) FBN1-specific guideline. Recently, the ClinGen guidance for PP1/BS4 co-segregation and PP4 phenotype specificity criteria (new PP1/PP4 criteria) were released. Here, we performed reassessment of FBN1 VUSs using these new PP1/PP4 criteria. FBN1 VUSs collected from December 2015 to April 2024 were reassessed according to the ClinGen FBN1-specific guideline and new PP1/PP4 criteria.

Successful birth after preimplantation genetic testing for rare mitochondrial DNA mutation m.10197G>A

2025-03-31 - 2025-03

Here we report the first successful birth after preimplantation genetic testing for m.10197G>A mutation, a rare variant responsible for Leigh encephalopathy. Preimplantation genetic testing diagnosed the embryo with a mutant load of <5%, and transfer resulted in a live birth. The mutant load of embryos diagnosed in this case was skewed to the extremes. Skewed segregation patterns have been observed in common mutations, but this case suggests that the same phenomenon may be seen in this rare mutation.

EDITORIAL 08 January 2025 We need to talk about human genome editing

2025-03-31 - 2025-03

We need to talk about human genome editing
In a few decades, gene-editing technologies could reduce the likelihood of common human diseases. Societies must use this time to prepare for their arrival.
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Coloured PET scan of the brain of a patient with Alzheimer's disease compared with a normal brain on a black background
Human genome editing could markedly reduce the likelihood of Alzheimer’s disease. The brain scan on the left is of someone with Alzheimer’s disease; the one on the right is of a ‘typical’ brain.Credit: Centre Jean Perrin, ISM/Science Photo Library

Scientists know about tens of thousands of DNA variants that are associated with human diseases. On their own, the vast majority of these variants have small effects. But taken together, the result can be substantial. The effects of modifying multiple variants at once, known as polygenic genome editing, is the subject of an analysis published this week in

The genetic diversity of our plants and forests is at risk, new FAO reports warn

2025-03-28 - 2025-03

Rome—Genetic diversity is key to creating more resilient agrifood systems that withstand challenges such as shifting climate patterns. Since 80 percent of the food we consume is plant-based, preserving a wide range of genetic materials allows farmers to grow crops and varieties suited to their local environments, enhancing food security and livelihoods.
As the world faces widespread hunger, malnutrition and poverty, exacerbated by biodiversity loss, climate change, land degradation, and conflicts, there is an urgent need to halt the loss of the genetic resources that support agrifood systems.
Two reports published this week under the auspices of the Commission on Genetic Resources for Food and Agriculture, under the Food and Agriculture Organization of the United Nations (FAO), emphasize the need for urgent action.

Gene-modified pig-to-human liver xenotransplantation

2025-03-27 - 2025-03

Liver transplantation is the most effective treatment for end-stage liver diseases. However, the number of allogeneic donations fails to meet the growing demand for transplants. To address the shortage, porcine organs are being considered as an ideal supplement given their compatible physiological function and size1,2. Moreover, theoretical and technical advances in gene editing have enabled the removal of key genes that mediate hyperacute rejection, such as glycoprotein ?-galactosyltransferase 1 (GGTA1) and cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMAH), and the insertion of human transgenes

Modern humans descended from not one, but at least 2 ancestral populations that drifted apart and later reconnected, long before modern humans spread across the globe.

2025-03-26 - 2025-03

Using advanced analysis based on full genome sequences, researchers from the University of Cambridge have found evidence that modern humans are the result of a genetic mixing event between two ancient populations that diverged around 1.5 million years ago. About 300,000 years ago, these groups came back together, with one group contributing 80% of the genetic makeup of modern humans and the other contributing 20%.

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