During in vitro fertilization procedure in February/March 2018, He Jiankui team - as they describe - conducted gene surgery on embryo cells. It was the...
The first successful gene drive in mammals – mice with Tyr gene
More: Super-Mendelian inheritance mediated by CRISPR–Cas9 in the female mouse germline, H. A. Grunwald et al., published 23rd January 2019, doi:10.1038/s41586-019-0875-2
Plant genome: new insights into methylation mechanisms
More: DNA methylation and histone H1 cooperatively repress transposable elements and aberrant intragenic transcripts, J. Choi et al., posted 27th January 2019 at bioRxiv, doi:10.1101/527523 - not peer-reviewed
UBE3A plays an important role in anti-viral immunity in the brain
More: UBE3A regulates the transcription of IRF, an anti-viral immunity, R. Furumai et al., posted 26th January 2019 at oup.com as accepted manuscript, doi:10.1093/hmg/ddz019 - not peer-reviewed
Details of novel rare USP7-associated neurodevelopmental disorder
More: Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies, M. D. Fountain et al., published 25th January 2019, doi:10.1038/s41436-019-0433-1
Obesity linked with genetic variants – new polygenic risk score
More: NHGRI Workshop - Current state of the art in variant discovery and association, A. Khera, presented 22nd January 2019, genome.gov/GenomeTVLive
The future of genomics – predictions of 24 experts
More: Where is genomics going next? B. Cheifet, with: R. Knight, M. Zavolan, S. Yup Lee, H. Ma, J. Ule, O. Harismendy, J. Bhak, N. Perrimon, D. Odom, D. Adams, C. Bock, S. Henikoff, W....
A new, essential function of introns in eukaryotic cells: stress response
More: Introns are mediators of cell response to starvation, J. Parenteau et al., published 16th January 2019, doi:10.1038/s41586-018-0859-7 Excised linear introns regulate growth in yeast, J. T. Morgan & G. R. Fink & D. P....
Single cell RNA sequencing reveals details of global gene regulation
More: Genomic encoding of transcriptional burst kinetics, A. J. M. Larsson et al., posted 2nd January 2019 at bioRxiv, doi:10.1038/s41586-018-0836-1
Missing heritability of Stargardt disease hides in introns
More: Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides, R. Sangermano et al., published 15th January 2019, doi:10.1038/s41436-018-0414-9
Human embryo genome undergoes modifications from the very beginning
More: LINE-1 retrotransposition impacts the genome of human pre implantation embryos and extraembryonic tissues, M. Munoz-Lopez et al., posted 18th January 2019 at bioRxiv, doi:10.1101/522623 - not peer-reviewed