High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes

FERM domain mutations induce gain of function in JAK3 in adult T-cell leukemia/lymphoma

(2011) N. E. Elliott et al.   BLOOD

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

(2011) Frederick E. Dewey et al.   PLoS Genetics

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Prognostic implications of mutations and expression of the Wilms tumor 1 (WT1) gene in adult acute T-lymphoblastic leukemia

(2010) S. Heesch et al.   HAEMATOLOGICA

PHF6 mutations in T-cell acute lymphoblastic leukemia

(2010) Pieter Van Vlierberghe et al.   NATURE GENETICS

Array-based genomic resequencing of human leukemia

(2010) Y Yamashita et al.   ONCOGENE

Somatic Mutation Profiles of MSI and MSS Colorectal Cancer Identified by Whole Exome Next Generation Sequencing and Bioinformatics Analysis

(2010) Bernd Timmermann et al.   PLoS One

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing

(2010) A. E. Shearer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Constitutive JAK3 activation induces lymphoproliferative syndromes in murine bone marrow transplantation models

(2009) M. G. Cornejo et al.   BLOOD

WT1 mutations in T-ALL

(2009) V. Tosello et al.   BLOOD

High frequency of PTEN, PI3K, and AKT abnormalities in T-cell acute lymphoblastic leukemia

(2009) A. Gutierrez et al.   BLOOD

A SNP discovery method to assess variant allele probability from next-generation resequencing data

(2009) Y. Shen et al.   GENOME RESEARCH

Frequency and clinical relevance of DNA microsatellite alterations of the CDKN2A/B, ATM and p53 gene loci: a comparison between pediatric precursor T-cell lymphoblastic lymphoma and T-cell lymphoblastic leukemia

(2009) D. Krieger et al.   HAEMATOLOGICA

TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis

(2009) A Tefferi et al.   LEUKEMIA

Acquired mutations in TET2 are common in myelodysplastic syndromes

(2009) Saskia M C Langemeijer et al.   NATURE GENETICS

Mutation inTET2in Myeloid Cancers

(2009) François Delhommeau et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing of a Multigenerational Human Pedigree

(2009) Dale Hedges et al.   PLoS One

Atonal homolog 1 Is a Tumor Suppressor Gene

(2009) Wouter Bossuyt et al.   PLOS BIOLOGY

Evaluation of next generation sequencing platforms for population targeted sequencing studies

(2009) Olivier Harismendy et al.   GENOME BIOLOGY

Activating mutations in human acute megakaryoblastic leukemia

(2008) S. Malinge et al.   BLOOD

Somatically acquiredJAK1mutations in adult acute lymphoblastic leukemia

(2008) Elisabetta Flex et al.   JOURNAL OF EXPERIMENTAL MEDICINE

JAKs in pathology: Role of Janus kinases in hematopoietic malignancies and immunodeficiencies

(2008) William Vainchenker et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY