From variant to function in human disease genetics
T Lappalainen, DG MacArthur - Science, 2021 - science.org
Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …
biological mechanisms by which genetic variants influence phenotypes, including disease …
Synthetic lethality as an engine for cancer drug target discovery
A Huang, LA Garraway, A Ashworth… - Nature reviews Drug …, 2020 - nature.com
The first wave of genetically targeted therapies for cancer focused on drugging gene
products that are recurrently mutated in specific cancer types. However, mutational analysis …
products that are recurrently mutated in specific cancer types. However, mutational analysis …
Complementary Alu sequences mediate enhancer–promoter selectivity
L Liang, C Cao, L Ji, Z Cai, D Wang, R Ye, J Chen… - Nature, 2023 - nature.com
Enhancers determine spatiotemporal gene expression programs by engaging with long-
range promoters,,–. However, it remains unknown how enhancers find their cognate …
range promoters,,–. However, it remains unknown how enhancers find their cognate …
[PDF][PDF] The next horizon in precision oncology: Proteogenomics to inform cancer diagnosis and treatment
H Rodriguez, JC Zenklusen, LM Staudt, JH Doroshow… - Cell, 2021 - cell.com
When it comes to precision oncology, proteogenomics may provide better prospects to the
clinical characterization of tumors, help make a more accurate diagnosis of cancer, and …
clinical characterization of tumors, help make a more accurate diagnosis of cancer, and …
Discovery and implications of polygenicity of common diseases
The sequencing of the human genome has allowed the study of the genetic architecture of
common diseases: the number of genomic variants that contribute to risk of disease and …
common diseases: the number of genomic variants that contribute to risk of disease and …
The complete reference genome for grapevine (Vitis vinifera L.) genetics and breeding
Grapevine is one of the most economically important crops worldwide. However, the
previous versions of the grapevine reference genome tipically consist of thousands of …
previous versions of the grapevine reference genome tipically consist of thousands of …
DNA sequencing at 40: past, present and future
This review commemorates the 40th anniversary of DNA sequencing, a period in which we
have already witnessed multiple technological revolutions and a growth in scale from a few …
have already witnessed multiple technological revolutions and a growth in scale from a few …
[PDF][PDF] Multiscale analysis of independent Alzheimer's cohorts finds disruption of molecular, genetic, and clinical networks by human herpesvirus
Investigators have long suspected that pathogenic microbes might contribute to the onset
and progression of Alzheimer's disease (AD) although definitive evidence has not been …
and progression of Alzheimer's disease (AD) although definitive evidence has not been …
[HTML][HTML] BBMerge–accurate paired shotgun read merging via overlap
B Bushnell, J Rood, E Singer - PloS one, 2017 - journals.plos.org
Merging paired-end shotgun reads generated on high-throughput sequencing platforms can
substantially improve various subsequent bioinformatics processes, including genome …
substantially improve various subsequent bioinformatics processes, including genome …
[PDF][PDF] Machine learning for multi-omics data integration in cancer
Multi-omics data analysis is an important aspect of cancer molecular biology studies and
has led to ground-breaking discoveries. Many efforts have been made to develop machine …
has led to ground-breaking discoveries. Many efforts have been made to develop machine …