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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 ... -
Chroniques génomiques - Un cadeau empoisonné
(EDP Sciences, 2020)GWAS analysis of severe Covid patients implicates a major locus on chromosome 3. The corresponding 50 kb segment appears to originate from Neanderthal/Sapiens crossings, raising interesting evolutionary questions. -
Chroniques génomiques - Une approche pragmatique pour gérer les traitements onéreux
(Éditions EDK, Groupe EDP Sciences, 2017)Inflated drug prices necessarily raise the issue of rational allocation of health care resources. The system operated by the NICE agency in the UK attempts to do this by calculating the cost per quality-adjusted life year ... -
Chroniques génomiques - Une question de pigmentation
(EDP Sciences, 2018)GWAS analyses for skin colour performed on a series of diverse African groups reveal new loci involved in this phenotype and, surprisingly, the presence within several African populations of the “light” allele of the SLC24A5 ... -
Chroniques génomiques - Une thérapie très attendue… et un prix exorbitant !
(EDP Sciences, 2023)After many years of development, a gene therapy for haemophilia B has demonstrated effectiveness and durability, at least over a time span of three years. It has just been approved (as Hemgenix®) by the FDA in the USA and ... -
Chroniques génomiques - Variants fréquents et rares, caractères multigéniques et héritabilité perdue
(Éditions EDK, Groupe EDP Sciences, 2017)Recently, a systematic (but limited) search for rare variants implicated in adult height, a highly polygenic trait, has uncovered a number of new variants for which the effect size is inversely correlated with the minor ... -
Chroniques génomiques - Variants rares et explosion démographique
(Éditions EDK, Groupe EDP Sciences, 2014)The abundance of rare variants in human DNA is the consequence of tremendous recent expansion of our population. Careful measurement of neutral variants in a European population points to more recent and more rapid expansion ... -
Chroniques génomiques - « Explosion des cancers » : retour aux chiffres
(Éditions EDK, Groupe EDP Sciences, 2016)The SEER site set up by the NCI provides an opportunity to generate ad hoc graphs of cancer statistics over the last forty years, makes it possible to examine commonly held assumptions such as a “cancer epidemic” and allows ...