Elaine R. Mardis

Comprehensive molecular portraits of human breast tumours

Integrated genomic analyses of ovarian carcinoma

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

A global reference for human genetic variation

The Origin and Evolution of Mutations in Acute Myeloid Leukemia

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

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

The genetic basis of early T-cell precursor acute lymphoblastic leukaemia

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 and...

The genomic landscape of hypodiploid acute lymphoblastic leukemia

An obesity-associated gut microbiome with increased capacity for energy harvest

Initial sequencing and analysis of the human genome

The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collabor...

Extending assembly of short DNA sequences to handle error

Abstract Inexpensive de novo genome sequencing, particularly in organisms with small genomes, is now possible using several new sequencing technologies. Some of these technologi...

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation