Concepedia

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia

Helen E. Speedy, Ben Kinnersley, Daniel Chubb, Peter Broderick, Philip Law, Kevin Litchfield, Sandrine Jayne, Martin J.S. Dyer, Claire Dearden, George Follows,

Blood · 2016 · 122 citations · 54 references

DOIFull text

Open access

Concepts

Abstract

Key Points Germ line loss-of-function mutations in shelterin genes occur in a subset of families with CLL. Telomere dysregulation is further implicated in CLL predisposition.

References

54

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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UCSF Chimera—A visualization system for exploratory research and analysis

Eric F. Pettersen, Thomas D. Goddard, Conrad C. Huang et al. · Journal of Computational Chemistry · 2004 · 47.8K citations

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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Jalview Version 2—a multiple sequence alignment editor and analysis workbench

Andrew Waterhouse, James B Procter, David Martin et al. · Bioinformatics · 2009 · 10.9K citations · Full text

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