Biology of Genomes: making sense of sequence

por MacArthur, Daniel G
Publicado 2009

Sifting disease-causing signal from genomic noise

por MacArthur, Daniel G
Publicado 2012

Challenges in clinical genomics

por MacArthur, Daniel G
Publicado 2012

Human disease genomics: from variants to biology

por McCarthy, Mark I., MacArthur, Daniel G.
Publicado 2017

HI: haplotype improver using paired-end short reads

por Long, Quan, MacArthur, Daniel, Ning, Zemin, Tyler-Smith, Chris
Publicado 2009

The promise and reality of personal genomics

por Yngvadottir, Bryndis, MacArthur, Daniel G, Jin, Hanjun, Tyler-Smith, Chris
Publicado 2009

A synthetic-diploid benchmark for accurate variant calling evaluation

por Li, Heng, Bloom, Jonathan M, Farjoun, Yossi, Fleharty, Mark, Gauthier, Laura, Neale, Benjamin, MacArthur, Daniel
Publicado 2018

Defining the human reference protein-coding gene set

por Balasubramanian, Suganthi, Habegger, Lukas, Frankish, Adam, MacArthur, Daniel, Harte, Rachel, Tyler-Smith, Chris, Harrow, Jennifer, Gerstein, Mark
Publicado 2010

ClinVar data parsing

por Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben
Publicado 2017

UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) Binds to Alpha-Actinin 1: Novel Pathways in Skeletal Muscle?

por Amsili, Shira, Zer, Hagit, Hinderlich, Stephan, Krause, Sabine, Becker-Cohen, Michal, MacArthur, Daniel G., North, Kathryn N., Mitrani-Rosenbaum, Stella
Publicado 2008

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

por Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.
Publicado 2016

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

por Balasubramanian, Suganthi, Fu, Yao, Pawashe, Mayur, McGillivray, Patrick, Jin, Mike, Liu, Jeremy, Karczewski, Konrad J., MacArthur, Daniel G., Gerstein, Mark
Publicado 2017

An eMERGE Clinical Center at Partners Personalized Medicine

por Smoller, Jordan W., Karlson, Elizabeth W., Green, Robert C., Kathiresan, Sekar, MacArthur, Daniel G., Talkowski, Michael E., Murphy, Shawn N., Weiss, Scott T.
Publicado 2016

Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci

por Lessard, Samuel, Francioli, Laurent, Alfoldi, Jessica, Tardif, Jean-Claude, Ellinor, Patrick T., MacArthur, Daniel G., Lettre, Guillaume, Orkin, Stuart H., Canver, Matthew C.
Publicado 2017

Discordant calls across genotype discovery approaches elucidate variants with systematic errors

por Atkinson, Elizabeth G., Artomov, Mykyta, Loboda, Alexander A., Rehm, Heidi L., MacArthur, Daniel G., Karczewski, Konrad J., Neale, Benjamin M., Daly, Mark J.
Publicado 2023

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

por Zhang, Sidi, Samocha, Kaitlin E., Rivas, Manuel A., Karczewski, Konrad J., Daly, Emma, Schmandt, Ben, Neale, Benjamin M., MacArthur, Daniel G., Daly, Mark J.
Publicado 2018

Variant interpretation using population databases: Lessons from gnomAD

por Gudmundsson, Sanna, Singer‐Berk, Moriel, Watts, Nicholas A., Phu, William, Goodrich, Julia K., Solomonson, Matthew, Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne
Publicado 2021

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

por Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.
Publicado 2016

STRetch: detecting and discovering pathogenic short tandem repeat expansions

por Dashnow, Harriet, Lek, Monkol, Phipson, Belinda, Halman, Andreas, Sadedin, Simon, Lonsdale, Andrew, Davis, Mark, Lamont, Phillipa, Clayton, Joshua S., Laing, Nigel G., MacArthur, Daniel G., Oshlack, Alicia
Publicado 2018

Using high-resolution variant frequencies to empower clinical genome interpretation

por Whiffin, Nicola, Minikel, Eric, Walsh, Roddy, O’Donnell-Luria, Anne H, Karczewski, Konrad, Ing, Alexander Y, Barton, Paul J R, Funke, Birgit, Cook, Stuart A, MacArthur, Daniel, Ware, James S
Publicado 2017