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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 · 12.1K citations · Full text

Dna Sequencing, Sequencing, Medicine +14

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8K citations · Full text

Human Variation, Medicine, Genetics +6

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

P. Naresh Kumar, Steven Henikoff, Pauline C. Ng · Nature Protocols · 2009 · 6.6K citations

Protein Function, Functional Genomics, Non-synonymous Variants +13

Pfam: the protein families database

ROBERT FINN, Alex Bateman, Jody Clements et al. · Nucleic Acids Research · 2013 · 6.4K citations · Full text

Genetics, Molecular Biology, Genomics +16

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

Mathieu Anheim, Marie‐Céline Fleury, B. Monga et al. · Neurogenetics · 2009 · 185 citations

Clinical Management, Eastern France, Degenerative Disease +4