Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin

Bioinformatics

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown, +8

The American Journal of Human Genetics

Genome-wide Association StudyWhole-genome AssociationLinkage DisequilibriumGenotype-phenotype AssociationPopulation-based Linkage Analyses +10

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

Aaron McKenna, Matthew G. Hanna, Eric Banks, +8

Genome Research

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

D.R. Rosen, Teepu Siddique, David T. Patterson, +30

Nature

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisNeurological DisorderGeneticsMolecular Biology +5

Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

Manuela Neumann, Deepak M. Sampathu, Linda K. Kwong, +16

Science

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Jemeen Sreedharan, Ian P. Blair, Vineeta B. Tripathi, +15

Science

Tardbp LocusNeurodegenerative DiseasesAmyotrophic Lateral SclerosisMendelian DisorderGenetics +10

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Caroline Vance, Boris Rogelj, Tibor Hortobágyi, +19

Science

EngineeringGeneticsMolecular GeneticsDisease Gene IdentificationMendelian Disorder +15

Mutations in the <i>FUS/TLS</i> Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

Thomas J. Kwiatkowski, Daryl A. Bosco, Aurélie Leclerc, +23

Science

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisSomatic VariantMendelian DisorderGenetic Disorder +12

How common are the “common” neurologic disorders?

Deborah Hirtz, David J. Thurman, Katrina Gwinn, +3

Neurology

Mutations of optineurin in amyotrophic lateral sclerosis

Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, +24

Nature

Amyotrophic Lateral SclerosisNeurological DisorderNeurologyNeuroscienceNeuropathology +2