Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin

Bioinformatics

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

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

Genome Research

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Brian J. O’Roak, Laura Vives, Santhosh Girirajan, +20

Nature

BioinformaticsSporadic Autism ExomesSyndromic AutismMedicineGenetics +9

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan Sanders, Michael T. Murtha, Abha R. Gupta, +27

Nature

Neurodevelopmental DisordersSyndromic AutismWhole-exome SequencingGeneticsGenetic Disorder +7

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Benjamin M. Neale, Yan Kou, Li Liu, +56

Nature

Neurodevelopmental DisordersAutism Spectrum DisordersSyndromic AutismGeneticsGenetic Disorder +6

Estimate of the Mutation Rate per Nucleotide in Humans

Michael W. Nachman, Susan L. Crowell

Genetics

Genetic TestingGeneticsGenetic EpidemiologyGenomicsVisible Mutants +15

Molecular basis of base substitution hotspots in Escherichia coli

Christine Coulondre, Jeffrey H Miller, Philip J. Farabaugh, +1

Nature

Escherichia ColiMolecular BiologyStructural GenomicsMicrobiologyMolecular Microbiology +3

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Jared C. Roach, Gustavo Glusman, Arian F. A. Smit, +12

Science

Rate, molecular spectrum, and consequences of human mutation

Michael Lynch

Proceedings of the National Academy of Sciences

GeneticsGenomicsMolecular EcologyMolecular SpectrumMutation Biases +15

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Lynn M. Boyden, Murim Choi, Keith A. Choate, +43

Nature

Molecular PhysiologyGeneticsPhysiologyElectrolyte AbnormalitiesMolecular Biology +5