Results 141 to 150 of about 707,938 (218)

Clinical and data-driven optimization of Genomiser for rare disease patients: experience from the Hong Kong Genome Project. [PDF]

Brief Bioinform
Xi AMC, Yeung DLH, Ma W, Ying D, Tong AHY, Or D, Hue SPY, Project HKG, Chu AT, Chung BH.   +9 more
europepmc   +1 more source

ATZ‐1 promotes DNA replication efficiency to maintain normal meiotic function

FEBS Open Bio, EarlyView.
Absence of ATZ‐1 interferes with meiotic DNA replication and cell cycle function via CHK‐1. This causes downstream defects associated with DNA damage and genomic integrity. Taken together, this study suggests that ATZ‐1 influences DNA replication efficiency and cell cycle function to maintain normal meiotic function.
Taylin E. Gourley, Luke W. Molesworth, Nethma H. Waduge, Fahimeh Eskandari, Peter R. Boag, Gregory M. Davis   +5 more
wiley   +1 more source

Unveiling the regulatory potential of the non-coding genome: Insights from the human genome project to precision medicine. [PDF]

Genes Dis
Ruffo P, Traynor BJ, Conforti FL.
europepmc   +1 more source

Identification of (20R)‐protopanaxadiol from Panax ginseng as a novel anti‐SARS‐CoV‐2 compound

FEBS Open Bio, EarlyView.
We established a noninfectious BAC‐based SARS‐CoV‐2 replicon that enables antiviral screening under BSL‐2 conditions. Using this platform, we screened 373 food‐derived compounds and identified (20R)‐protopanaxadiol from Panax ginseng as a novel inhibitor of SARS‐CoV‐2 RNA replication, highlighting the value of safe replicon systems for antiviral ...
Midori Takeda, Natsue Maezono, Rina Uchikoshi, Nobuyuki Kato, Masanori Ikeda   +4 more
wiley   +1 more source

Toward building a comprehensive human pan-genome: The SEN-GENOME project. [PDF]

Am J Hum Genet
Gaye A, Sene ARG, Gadji M, Deme A, Cisse A, Ndiaye R.   +5 more
europepmc   +1 more source

Evolution‐guided yeast complementation reveals functional differences in human PSPH variants

FEBS Open Bio, EarlyView.
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez, Diana Ascencio, Miguel Vallebueno‐Estrada, Eduardo González‐Orozco, Christian Eduardo Martínez‐Guerrero, Rafael Montiel, Alexander DeLuna   +6 more
wiley   +1 more source

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project. [PDF]

Lancet Reg Health West Pac
Lam WKJ, Lau CS, Luk HM, Au LWC, Chan GCP, Chan WYH, Cheng SSW, Cheng THT, Cheung LL, Cheung YF, Chong JSC, Chu ATW, Chung CCY, Chung KL, Fung CW, Fung ELW, Gao Y, Ho S, Hue SPY, Lee CH, Lee TL, Li PH, Lo HM, Man Lo IF, Loong HHF, Ma BM, Ma W, Pang SYY, Seto WK, Siu SWK, So H, Tam YH, Tang W, Wong RMS, Yap DYH, Yau MLY, Chung BHY, Lo SV, Hong Kong Genome Project.   +38 more
europepmc   +1 more source

GenomeChronicler: The Personal Genome Project UK Genomic Report Generator Pipeline. [PDF]

Front Genet, 2020
Guerra-Assunção JA, Conde L, Moghul I, Webster AP, Ecker S, Chervova O, Chatzipantsiou C, Prieto PP, Beck S, Herrero J.   +9 more
europepmc   +1 more source

Dual native G‐quadruplex folding is associated with chromatin looping at the MYC locus

FEBS Open Bio, EarlyView.
BG4‐detectable G‐quadruplex (G4) in HaCaT and NHEK keratinocytes identified folded and unfolded G4s enriched at promoters/TSSs and active enhancers, whereas unfolded G4s also overlapped weak/poised enhancers. At MYC–PVT1, 3C‐qPCR detected enhancer–promoter looping only when G4s were simultaneously folded at both regulatory elements under native ...
Dieila Giomo de Lima, Gustavo Narvaes Guimarães, Emilyane de Oliveira Santana Amaral, Bianca Caroline Figueiredo Bianco, Manuel Jara‐Espejo, Sérgio Roberto Peres Line, Ana Paula de Souza, Aline Cristiane Planello   +7 more
wiley   +1 more source

Experiences of participants with undiagnosed diseases and hereditary cancers during the initial phase of the Hong Kong genome project: a mixed-methods study. [PDF]

Hum Genomics
Chu AT, Sze SY, Tse DM, Lai CW, Ng CS, Yu CW, Chung PH, Pang FC, Chung BH, Lo SV, Quan J.   +10 more
europepmc   +1 more source