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

Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

By comparing the sequences of tumor and skin genomes of a patient with AML-M1, we have identified recurring mutations that may be relevant for pathogenesis.

Finding the missing heritability of complex diseases

The impact of next-generation sequencing technology on genetics

EGF receptor gene mutations are common in lung cancers from “never smokers” and are associated with sensitivity of tumors to gefitinib and erlotinib

Somatic mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene are reportedly associated with sensitivity of lung cancers to gefitinib ...

Demographic history and rare allele sharing among human populations

High-throughput sequencing technology enables population-level surveys of human genomic variation. Here, we examine the joint allele frequency distributions across continental h...

The functional spectrum of low-frequency coding variation

Transcriptome-Wide Identification of Novel Imprinted Genes in Neonatal Mouse Brain

Imprinted genes display differential allelic expression in a manner that depends on the sex of the transmitting parent. The degree of imprinting is often tissue-specific and/or ...

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

We describe a map of 1.42 million single nucleotide polymorphisms (SNPs) distributed throughout the human genome, providing an average density on available sequence of one SNP e...

Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-Smokers