Our Scientific Publications
-
npg Genomic Medicine · August 16, 2021
-
bioRxiv · August 16, 2021 · Preprint
Fanconi Anemia Pathway Deficiency Drives Copy Number Variation in Squamous Cell Carcinomas.
-
bioRxiv · August 11, 2021 · Preprint
Protein prediction for trait mapping in diverse populations.
-
Nature Reviews Molecular Cell Biology · August 11, 2021
Voices of the new generation: open science is good for science (and for you).
-
Cold Spring Harb Mol Case Stud · August 6, 2021
Metastatic Pediatric Sclerosing Epithelioid Fibrosarcoma.
-
Cell Chemical Biology · August 2, 2021
Chemically modified guide RNAs enhance CRISPR-Cas13 knockdown in human cells.
-
PLoS Genet · July 27, 2021
An autoimmune disease risk variant: A trans master regulatory effect mediated by IRF1 under immune stimulation?
-
Nature Genetics · July 26, 2021
Recent ultra-rare inherited variants implicate new autism candidate risk genes.
-
Genome Medicine · July 19, 2021
Single-nucleus transcriptome analysis of human brain immune response in patients with severe COVID-19.
-
Human Genomics · July 13, 2021
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
-
Seminars in Cancer Biology · July 10, 2021
Clinical interpretation of whole-genome and whole-transcriptome sequencing for precision oncology.
-
Nature Protocols · July 9, 2021
Smart-RRBS for single-cell methylome and transcriptome analysis.
-
Blood · July 7, 2021
Multimodal single-cell analysis of cutaneous T cell lymphoma reveals distinct sub-clonal tissue-dependent signatures.
-
Seminars in Cancer Biology · June 25, 2021
Clinical utility of whole-genome sequencing in precision oncology.
-
bioRxiv · June 23, 2021 · Preprint
The Imaging and Molecular Annotation of Xenografts and Tumours (IMAXT) High Throughput Data and Analysis Infrastructure.
-
Proc Natl Acad Sci USA · June 15, 2021
ALS- and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy.
-
Seminars in Cancer Biology · June 10, 2021
Analytical Demands to Use Whole-Genome Sequencing in Precision Oncology.
-
Genetics in Medicine · June 10, 2021
GenomeDiver: a platform for phenotype-guided medical genomic diagnosis.
-
The Lancet Psychiatry · June 8, 2021
The epidemiology of psychiatric disorders in Africa: a scoping review.
-
bioRxiv · June 5, 2021 · Preprint
Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3′UTR in Amyotrophic Lateral Sclerosis
-
Nature Biotechnology · June 3, 2021
Scalable, multimodal profiling of chromatin accessibility, gene expression and protein levels in single cells.