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 …

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 …

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 …

[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 …

Discovery and implications of polygenicity of common diseases

PM Visscher, L Yengo, NJ Cox, NR Wray - Science, 2021 - science.org
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 …

The complete reference genome for grapevine (Vitis vinifera L.) genetics and breeding

X Shi, S Cao, X Wang, S Huang, Y Wang… - Horticulture …, 2023 - academic.oup.com
Grapevine is one of the most economically important crops worldwide. However, the
previous versions of the grapevine reference genome tipically consist of thousands of …

DNA sequencing at 40: past, present and future

J Shendure, S Balasubramanian, GM Church… - Nature, 2017 - nature.com
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 …

[PDF][PDF] Multiscale analysis of independent Alzheimer's cohorts finds disruption of molecular, genetic, and clinical networks by human herpesvirus

B Readhead, JV Haure-Mirande, CC Funk… - Neuron, 2018 - cell.com
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 …

[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 …

[PDF][PDF] Machine learning for multi-omics data integration in cancer

Z Cai, RC Poulos, J Liu, Q Zhong - Iscience, 2022 - cell.com
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 …