Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …

Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

B cell maturation antigen (BCMA) target loss is considered to be a rare event that mediates
multiple myeloma (MM) resistance to anti-BCMA chimeric antigen receptor T cell (CAR T) or …

The discovery of drivers of cancer has traditionally focused on protein-coding genes,,–. Here
we present analyses of driver point mutations and structural variants in non-coding regions …

The Ensembl project has been aggregating, processing, integrating and redistributing
genomic datasets since the initial releases of the draft human genome, with the aim of …

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-
genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence …

COSMIC, the Catalogue of Somatic Mutations in Cancer (http://cancer. sanger. ac. uk) is a
high-resolution resource for exploring targets and trends in the genetics of human cancer …

The Ensembl gene annotation system has been used to annotate over 70 different
vertebrate species across a wide range of genome projects. Furthermore, it generates the …

Abstract The Ensembl project (http://www. ensembl. org) is a system for genome annotation,
analysis, storage and dissemination designed to facilitate the access of genomic annotation …

The National Center for Biotechnology Information (NCBI) provides a large suite of online
resources for biological information and data, including the GenBank® nucleic acid …