List of works - Elaine Mardis

Initial sequencing and analysis of the human genome

scientific article published on 15 February 2001

Finding the missing heritability of complex diseases

scientific article

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

scientific article (publication date: 21 December 2006)

Initial sequencing and comparative analysis of the mouse genome

scientific article

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

scientific article published in June 2007

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

scientific article

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

scientific article

Integrated genomic characterization of endometrial carcinoma

scientific article published on May 2, 2013

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

scientific article

Somatic mutations affect key pathways in lung adenocarcinoma

scientific article

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

scientific article (publication date: 15 February 2001)

Recurring mutations found by sequencing an acute myeloid leukemia genome

scientific article

The impact of next-generation sequencing technology on genetics

scientific article

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

scientific article by Lucinda Fulton and Elaine Mardis

DNMT3A Mutations in Acute Myeloid Leukemia

scientific article (publication date: 16 December 2010)

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

scientific article

Next-generation DNA sequencing methods

scientific article

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

scientific article

Genome remodelling in a basal-like breast cancer metastasis and xenograft

scientific article

De Novo Gene Disruptions in Children on the Autistic Spectrum

scientific article (publication date: April 2012)

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

scientific article

Checkpoint blockade cancer immunotherapy targets tumour-specific mutant antigens

scientific article

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

scientific article

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

scientific article

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

scientific article

Characterizing the cancer genome in lung adenocarcinoma

scientific article

A high-resolution map of human evolutionary constraint using 29 mammals

scientific article

The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics

scientific article published in November 2003

Genomic landscape of non-small cell lung cancer in smokers and never-smokers

scientific article published on September 2012

Age-related mutations associated with clonal hematopoietic expansion and malignancies

scientific article

Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting

scientific article published on 08 February 2012

The genome of a songbird

scientific article

Whole-genome analysis informs breast cancer response to aromatase inhibition

scientific article

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia

scientific article

Activating HER2 mutations in HER2 gene amplification negative breast cancer

scientific article

Clonal architecture of secondary acute myeloid leukemia

scientific article published on 14 March 2012

A physical map of the human genome

scientific article

Novel mutations target distinct subgroups of medulloblastoma.

scientific article

A dendritic cell vaccine increases the breadth and diversity of melanoma neoantigen-specific T cells

scientific article published on April 2, 2015

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

scientific article

A decade's perspective on DNA sequencing technology

scientific article

Genome analysis of the platypus reveals unique signatures of evolution

scientific article

The Next-Generation Sequencing Revolution and Its Impact on Genomics

scientific article published on September 26, 2013

Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach.

scholarly article

A comparison of PAM50 intrinsic subtyping with immunohistochemistry and clinical prognostic factors in tamoxifen-treated estrogen receptor-positive breast cancer

scientific article

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas

scientific article published on 14 April 2013

MuSiC: identifying mutational significance in cancer genomes

scientific article

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

scientific article

Whole-genome sequencing and variant discovery in C. elegans.

scientific article

The genomic landscape of hypodiploid acute lymphoblastic leukemia

scientific article published on 20 January 2013

List of works by Elaine Mardis

Initial sequencing and analysis of the human genome

Finding the missing heritability of complex diseases

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

Initial sequencing and comparative analysis of the mouse genome

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

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

VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing

Integrated genomic characterization of endometrial carcinoma

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

Somatic mutations affect key pathways in lung adenocarcinoma

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

Recurring mutations found by sequencing an acute myeloid leukemia genome

The impact of next-generation sequencing technology on genetics

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

DNMT3A Mutations in Acute Myeloid Leukemia

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

Next-generation DNA sequencing methods

Evolutionary and Biomedical Insights from the Rhesus Macaque Genome

Genome remodelling in a basal-like breast cancer metastasis and xenograft

De Novo Gene Disruptions in Children on the Autistic Spectrum

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

Checkpoint blockade cancer immunotherapy targets tumour-specific mutant antigens

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

Characterizing the cancer genome in lung adenocarcinoma

A high-resolution map of human evolutionary constraint using 29 mammals

The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics

Genomic landscape of non-small cell lung cancer in smokers and never-smokers

Age-related mutations associated with clonal hematopoietic expansion and malignancies

Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting

The genome of a songbird

Whole-genome analysis informs breast cancer response to aromatase inhibition

Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia

Activating HER2 mutations in HER2 gene amplification negative breast cancer

Clonal architecture of secondary acute myeloid leukemia

A physical map of the human genome

Novel mutations target distinct subgroups of medulloblastoma.

A dendritic cell vaccine increases the breadth and diversity of melanoma neoantigen-specific T cells

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma

A decade's perspective on DNA sequencing technology

Genome analysis of the platypus reveals unique signatures of evolution

The Next-Generation Sequencing Revolution and Its Impact on Genomics

Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach.

A comparison of PAM50 intrinsic subtyping with immunohistochemistry and clinical prognostic factors in tamoxifen-treated estrogen receptor-positive breast cancer

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas

MuSiC: identifying mutational significance in cancer genomes

CREST maps somatic structural variation in cancer genomes with base-pair resolution.

Whole-genome sequencing and variant discovery in C. elegans.

The genomic landscape of hypodiploid acute lymphoblastic leukemia