A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

Timothy J Ley; Patrick J Minx; Matthew J Walter; Rhonda E Ries; Hui Sun; Michael McLellan; John F DiPersio; Daniel C Link; Michael H Tomasson; Timothy A Graubert; Howard McLeod; Hanna Khoury; Mark Watson; William Shannon; Kathryn Trinkaus; Sharon Heath; James W Vardiman; Michael A Caligiuri; Clara D Bloomfield; Jeffrey D Milbrandt; Elaine R Mardis; Richard K Wilson

doi:10.1073/pnas.2335924100

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A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

Journal article

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A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes

Timothy J Ley, Patrick J Minx, Matthew J Walter, Rhonda E Ries, Hui Sun, Michael McLellan, John F DiPersio, Daniel C Link, Michael H Tomasson, Timothy A Graubert, …

Proceedings of the National Academy of Sciences - PNAS, Vol.100(24), pp.14275-14280

11/25/2003

DOI: 10.1073/pnas.2335924100

PMCID: PMC283582

PMID: 14614138

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Abstract

In this pilot study, we used primary human acute myeloid leukemia (AML) cell genomes as templates for exonic PCR amplification, followed by high-throughput resequencing, analyzing ≈7 million base pairs of DNA from 140 AML samples and 48 controls. We identified six previously described, and seven previously undescribed sequence changes that may be relevant for AML pathogenesis. Because the sequencing templates were generated from primary AML cells, the technique favors the detection of mutations from the most dominant clones within the tumor cell mixture. This strategy represents a viable approach for the detection of potentially relevant, nonrandom mutations in primary human cancer cell genomes.

Biological Sciences

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Title: Subtitle: A pilot study of high-throughput, sequence-based mutational profiling of primary human acute myeloid leukemia cell genomes
Creators: Timothy J Ley - Departments of
Patrick J Minx - Departments of
Matthew J Walter - Departments of
Rhonda E Ries - Departments of
Hui Sun - Departments of
Michael McLellan - Departments of
John F DiPersio - Departments of
Daniel C Link - Departments of
Michael H Tomasson - Departments of
Timothy A Graubert - Departments of
Howard McLeod - Departments of
Hanna Khoury - Departments of
Mark Watson - Departments of
William Shannon - Departments of
Kathryn Trinkaus - Departments of
Sharon Heath - Departments of
James W Vardiman - Departments of
Michael A Caligiuri - Departments of
Clara D Bloomfield - Departments of
Jeffrey D Milbrandt - Departments of
Elaine R Mardis - Departments of
Richard K Wilson - Departments of
Resource Type: Journal article
Publication Details: Proceedings of the National Academy of Sciences - PNAS, Vol.100(24), pp.14275-14280
DOI: 10.1073/pnas.2335924100
PMID: 14614138
PMCID: PMC283582
NLM abbreviation: Proc Natl Acad Sci U S A
ISSN: 0027-8424
eISSN: 1091-6490
Publisher: National Academy of Sciences
Language: English
Date published: 11/25/2003
Academic Unit: Hematology, Oncology, and Blood & Marrow Transplantation; Internal Medicine
Record Identifier: 9984094517802771

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