Several new genomics technologies have become available that offer long-read sequencing
or long-range map** with higher throughput and higher resolution analysis than ever …

There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …

The availability of long reads is revolutionizing studies of structural variants (SVs). However,
because SVs vary across individuals and are discovered through imprecise read …

Abstract We describe Strelka2 (https://github. com/Illumina/strelka), an open-source small-
variant-calling method for research and clinical germline and somatic sequencing …

Comprehensive disease gene discovery in both common and rare diseases will require the
efficient and accurate detection of all classes of genetic variation across tens to hundreds of …

Pancreatic cancer is the most lethal common solid malignancy. Systemic therapies are often
ineffective, and predictive biomarkers to guide treatment are urgently needed. We generated …

Major advances in crop yields are needed in the coming decades. However, plant breeding
is currently limited by incremental improvements in quantitative traits that often rely on …

The CD155/TIGIT axis can be co-opted during immune evasion in chronic viral infections
and cancer. Pancreatic adenocarcinoma (PDAC) is a highly lethal malignancy, and immune …

Immune evasion is a hallmark of cancer and therapies that restore immune surveillance
have proven highly effective in cancers with high tumor mutation burden (TMB)(for example …

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …