We report an improved draft nucleotide sequence of the 2.3-gigabase genome of maize, an
important crop plant and model for biological research. Over 32,000 genes were predicted, …

Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

Determining the genetic basis of cancer requires comprehensive analyses of large collections
of histopathologically well-classified primary tumours. Here we report the results of a …

Background The full complement of DNA mutations that are responsible for the pathogenesis
of acute myeloid leukemia (AML) is not yet known. Methods We used massively parallel …

Background The genetic alterations responsible for an adverse outcome in most patients
with acute myeloid leukemia (AML) are unknown. Methods Using massively parallel DNA …

Most patients with acute myeloid leukaemia (AML) die from progressive disease after relapse,
which is associated with clonal evolution at the cytogenetic level 1 , 2 . To determine the …

Most mutations in cancer genomes are thought to be acquired after the initiating event,
which may cause genomic instability and drive clonal evolution. However, for acute myeloid …

Early T-cell precursor acute lymphoblastic leukaemia (ETP ALL) is an aggressive malignancy
of unknown genetic basis. We performed whole-genome sequencing of 12 ETP ALL cases …

Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …

Detection and characterization of genomic structural variation are important for understanding
the landscape of genetic variation in human populations and in complex diseases such as …