Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 60.7K citations · Full text

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

Shaun Purcell, Benjamin M. Neale, Katherine EO Todd-Brown et al. · The American Journal of Human Genetics · 2007 · 34.9K citations · Full text

Genome-wide Association Study, Whole-genome Association, Linkage Disequilibrium +12

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

Cerebral organoids model human brain development and microcephaly

Madeline A. Lancaster, Magdalena Renner, Carol-Anne Martin et al. · Nature · 2013 · 5.1K citations · Full text

Developmental Biology, Brain Structure, Brain Development +9

Circular binary segmentation for the analysis of array-based DNA copy number data

Adam B. Olshen, E. S. Venkatraman, R. Lucito et al. · Biostatistics · 2004 · 2.4K citations

Engineering, Genetics, Dna Analysis +22