Mutational landscape of triple-negative breast cancer in African American women
Patient population Paired tumor and normal samples from 513 self-identified AA women with TNBC were interrogated by WES.…
Clinical features and genetic analysis of A20 haploinsufficiency | Orphanet Journal of Rare Diseases
The A20 acts as a critical negative regulator of the NF-κB signaling pathway by suppressing inflammatory cascades through…
Precise modulation of BRG1 levels reveals features of mSWI/SNF dosage sensitivity
BRG1 binding exhibits a linear response to its dosage In mES cells, Brg1 encodes the major catalytic subunit…
Temporal genomic dynamics shape clinical trajectory in multiple myeloma
Maura, F. et al. Moving from cancer burden to cancer genomics for smoldering myeloma: a review. JAMA Oncol.…
Imaging-based multimodal profiling of single cells with STAMP
Single-cell RNA sequencing (scRNA-seq) has dramatically advanced our ability to dissect complex biological systems at cellular resolution. However,…
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…
Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services | Orphanet Journal of Rare Diseases
Participant demographics Eighteen participants completed the PAS and IIQ surveys and participated in interviews. Table 1 lists participant…
The genetic history of Portugal over the past 5,000 years | Genome Biology
Gómez-Carballa, A., Olivieri, A., Behar, D.M., Achilli, A., Torroni, A., and Salas, A. . Genetic Continuity in the…
A comparison of 27 Arabidopsis thaliana genomes and the path toward an unbiased characterization of genetic polymorphism
DNA extraction and sequencing For long-read sequencing, we began with 3-week-old plants grown in soil that had been…
Tracing the evolution of sequencing into the era of genomic medicine
Sanger, F., Nicklen, S. & Coulson, A. R. DNA sequencing with chain-terminating inhibitors. Proc. Natl Acad. Sci. USA…
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes
Uffelmann, E. et al. Genome-wide association studies. Nat. Rev. Methods Prim. 1, 59 (2021). CAS Google Scholar Visscher,…
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maize
Quantification of functional cis-variation To focus on genetic differences affecting TF binding in cis, we quantified TF footprints…