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Chroniques génomiques - Modification ciblée du génome : une nouvelle approche prometteuse
(Éditions EDK, Groupe EDP Sciences, 2017)A new approach, based on the use of peptide nucleic acid molecules to form triple helices and promote locus-specific recombination, demonstrates potential for in vivo gene correction at clinically significant levels and ... -
Chroniques génomiques - Mutations somatiques et longévité
(EDP Sciences, 2022)New approaches allow precise measurement of somatic mutations in tissues. Applied to a diverse set of mammals, these methods show that somatic mutation load increases with age (as expected) but reaches similar levels near ... -
Chroniques génomiques - Naissance d’un gène
(EDP Sciences, 2023)The availability of an extensive set of vertebrate genome sequences, together with large-scale transcriptome studies, has allowed the discovery of numerous non-canonical ORFs (usually quite short) with evidence of ... -
Chroniques génomiques - Néandertal et Afrique, le retour
(Éditions EDK, Groupe EDP Sciences, 2020)Sophisticated analyses of current human populations compared to a high-coverage Neandertal genome sequence indicate that, contrary to the previous consensus, African genomes carry a small but significant amount of ... -
Chroniques génomiques - Nos défauts génétiques cachés
(EDP Sciences, 2021)A systematic study analysing the exomes of several thousand individuals indicates that each of them carries at least one strongly deleterious mutation that is innocuous in a heterozygote but results in a severe phenotype ... -
Chroniques génomiques - Nouveau et (beaucoup) plus cher – Meilleur ?
(EDP Sciences, 2023)The prices of new oncology drugs are frequently above 100,000 US dollars, and this does not generally correlate with significantly improved clinical efficacy. In the absence of effective regulation and of real competition, ... -
Chroniques génomiques - Réparation de l’ADN et longévité : les rongeurs et nous
(EDP Sciences, 2022)Large differences in maximum longevity exist between different rodent species. Determination of the spontaneous and mutagen-induced mutation rates in these species by single (somatic) cell sequencing suggests more efficient ... -
Chroniques génomiques - Scoop : les mutations « synonymes » ne sont pas neutres !
(EDP Sciences, 2022)An ingenious system for generating thousands of point mutations in yeast genes and measuring their effect on fitness shows convincingly that, for the chosen subset of representative non-essential genes, silent mutations ... -
Chroniques génomiques - Scores polygéniques : vers l’embryon à la carte ?
(EDP Sciences, 2020)A new company is offering extensive genetic analysis of embryos during an in vitro fertilisation procedure, allowing the derivation of polygenic scores for several diseases and embryo choice based on these results. Polygenic ... -
Chroniques génomiques - Scores polygéniques et risque de cancer
(EDP Sciences, 2020)Risk assessment for a cancer type with moderate heritability can be accurately performed using a relatively small number of SNPs detected by GWAS analyses to calculate a polygenic risk score (PRS) that has definite clinical ... -
Chroniques génomiques - Séquence du génome : la fin du commencement
(EDP Sciences, 2022)Two decades after its original publication, a new human genome sequence has just been published. Far from being an incremental improvement, it is at last really complete, covering each chromosome from one end to the other, ... -
Chroniques génomiques - Séquencer les bébés ?
(Éditions EDK, Groupe EDP Sciences, 2015)An extension of newborn screening to genome sequencing is now feasible but raises a number of scientific, organisational and ethical issues. This is being explored in discussions and in several funded trials, in order to ... -
Chroniques génomiques - Séquençage d’ADN, la fin d’un quasi-monopole ?
(EDP Sciences, 2023)DNA sequencing costs have steadily decreased during the last decade, but the dominant technology (short-read sequencing, Illumina) has seen comparatively little competition after an initial flurry. This phase is now over, ... -
Chroniques génomiques - Séquençage d’ADN: l’offensive des nanopores
(Éditions EDK, Groupe EDP Sciences, 2017)A practical DNA sequencer based on nanopores has now demonstrated interesting performance and may be on the way to capturing a significant slice of the sequencing market while opening up new application fields thanks to ... -
Chroniques génomiques - Slide-seq : L'analyse d'expression à haute résolution spatiale
(EDP Sciences, 2019)A newly developed technique allows the analysis of gene expression within tissues at near-cellular resolution. This opens a whole range of applications and will be a major ingredient of future studies. -
Chroniques génomiques - Sommet de Washington : feu orange pour la thérapie germinale ?
(Éditions EDK, Groupe EDP Sciences, 2016)The summit organised in early December 2015 considered in depth the various issues (technical, scientific, societal and ethical) raised by the prospect of genome editing using the extremely effective CRISPR system. Germline ... -
Chroniques génomiques - Synthétique, vous avez dit « Synthétique » ?
(Éditions EDK, Groupe EDP Sciences, 2016)The synthesis of a minimal bacterial genome comprising only 473 genes is an impressive achievement, yet it is only a step towards a really synthetic genome based on first principles: this set of genes was derived from a ... -
Chroniques génomiques - Taille à l’âge adulte : une myriade de locus
(EDP Sciences, 2023)The combination of 281 GWAS studies for adult height leads to the identification of 12,111 SNP in 7,209 loci that together account for essentially all SNP heritability for this trait: there is no longer any significant ... -
Chroniques génomiques - Thérapie génique germinale, le retour ?
(Éditions EDK, Groupe EDP Sciences, 2015)The recent development of a powerful and flexible genome editing technique (the CRISP-cas9 method) accelerates tremendously the production of animal models and will significantly enhance the perspectives of (somatic) gene ... -
Chroniques génomiques - Tout savoir sur les mutations germinales chez les vertébrés
(EDP Sciences, 2023)Mutations in the germline are an essential component of evolution. Current DNA sequencing systems allow quantification of these mutations through full genome sequencing of father/mother/child trios. A recent paper reports ...