Guillermo del Angel

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

From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline

Geraldine Van Der Auwera, Mauricio O. Carneiro, Christopher Hartl et al. · Current Protocols in Bioinformatics · 2013 · 7K citations

A global reference for human genetic variation

Adam Auton, Gonçalo R. Abecasis, David Altshuler et al. · Civil War Book Review · 2015 · 612 citations · Full text

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Olivier Delaneau, Jonathan Marchini, Gil McVean et al. · Nature Communications · 2014 · 441 citations · Full text

Haplotype Determination, Next-generation Sequencing, Genetics +11

Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia

Guillermo del Angel, John Reynders, Christopher Negron et al. · Human Mutation · 2020 · 54 citations · Full text

Genetics, Molecular Biology, Disease Gene Identification +21