New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …

Cancers are caused by the accumulation of genomic alterations. Therefore, analyses of
cancer genome sequences and structures provide insights for understanding cancer …

Stroke has multiple etiologies, but the underlying genes and pathways are largely unknown.
We conducted a multiancestry genome-wide-association meta-analysis in 521,612 …

Intestinal homeostasis is underpinned by LGR5+ve crypt-base columnar stem cells (CBCs),
but following injury, dedifferentiation results in the emergence of LGR5− ve regenerative …

Abstract We analyzed transcriptomes (n= 211), whole exomes (n= 99) and targeted exomes
(n= 103) from 216 malignant pleural mesothelioma (MPM) tumors. Using RNA-seq data, we …

Single nucleotide variants represent a prevalent form of genetic variation. Mutations in the
coding regions are frequently associated with the development of various genetic diseases …

The rate at which nonsynonymous single nucleotide polymorphisms (ns SNP s) are being
identified in the human genome is increasing dramatically owing to advances in whole …

Sequencing studies are increasingly being conducted to identify rare variants associated
with complex traits. The limited power of classical single-marker association analysis for rare …

As large-scale re-sequencing of genomes reveals many protein mutations, especially in
human cancer tissues, prediction of their likely functional impact becomes important …

Small-cell lung cancer (SCLC) is an exceptionally aggressive disease with poor prognosis.
Here, we obtained exome, transcriptome and copy-number alteration data from …