"Gabriel, Stacey" - Selaus tekijän mukaan TUNICRIS-julkaisut

Viitteet 1-6 / 6

    • Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals 

      Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Whiffin, Nicola; Karczewski, Konrad J.; Zhang, Xiaolei; Chothani, Sonia; Smith, Miriam J.; Evans, D. Gareth; Roberts, Angharad M.; Quaife, Nicholas M.; Schafer, Sebastian; Rackham, Owen; Alföldi, Jessica; O’Donnell-Luria, Anne H.; Francioli, Laurent C.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Gabriel, Stacey; Gauthier, Laura D.; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Laricchia, Kristen M.; Llanwarne, Christopher; Minikel, Eric V.; Munshi, Ruchi; Neale, Benjamin M.; Novod, Sam; Petrillo, Nikelle; Poterba, Timothy; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Samocha, Kaitlin E.; Schleicher, Molly; Seed, Cotton; Solomonson, Matthew; Soto, Jose; Lehtimäki, Terho; Mattila, Kari M.; Suvisaari, Jaana (05 / 2020)
      article
      Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide ...

    • The effect of LRRK2 loss-of-function variants in humans 

      Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; 23andMe Research Team; Whiffin, Nicola; Kleinman, Aaron; Marshall, Jamie L.; Minikel, Eric V.; Goodrich, Julia K.; Quaife, Nicholas M.; Cole, Joanne B.; Wang, Qingbo; Karczewski, Konrad J.; Cummings, Beryl; Francioli, Laurent; Laricchia, Kristen M.; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A.S.; Merchant, Kalpana M.; Alföldi, Jessica; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Gabriel, Stacey; Gauthier, Laura D.; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Neale, Benjamin M.; Novod, Sam; O’Donnell-Luria, Anne H.; Petrillo, Nikelle; Lehtimäki, Terho; Mattila, Kari M.; Suvisaari, Jaana (01.06.2020)
      article
      Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation and can be valuable indicators of gene function and the potential ...

    • Evaluating drug targets through human loss-of-function genetic variation 

      Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Minikel, Eric V.; Karczewski, Konrad J.; Martin, Hilary C.; Cummings, Beryl B.; Whiffin, Nicola; Rhodes, Daniel; Alföldi, Jessica; Trembath, Richard C.; van Heel, David A.; Daly, Mark J.; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Francioli, Laurent; Gabriel, Stacey; Gauthier, Laura D.; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Laricchia, Kristen M.; Llanwarne, Christopher; Munshi, Ruchi; Neale, Benjamin M.; Novod, Sam; O’Donnell-Luria, Anne H.; Petrillo, Nikelle; Poterba, Timothy; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Samocha, Kaitlin E.; Schleicher, Molly; Seed, Cotton; Solomonson, Matthew; Lehtimäki, Terho; Mattila, Kari M.; Suvisaari, Jaana (05 / 2020)
      article
      Naturally occurring human genetic variants that are predicted to inactivate protein-coding genes provide an in vivo model of human gene inactivation that complements knockout studies in cells and model organisms. Here we ...

    • The mutational constraint spectrum quantified from variation in 141,456 humans 

      Genome Aggregation Database Consortium; Karczewski, Konrad J.; Francioli, Laurent C.; Tiao, Grace; Cummings, Beryl B.; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L.; Laricchia, Kristen M.; Ganna, Andrea; Birnbaum, Daniel P.; Gauthier, Laura D.; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A.; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M.; Seaby, Eleanor G.; Kosmicki, Jack A.; Walters, Raymond K.; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X.; Samocha, Kaitlin E.; Pierce-Hoffman, Emma; Zappala, Zachary; O’Donnell-Luria, Anne H.; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S.; Vittal, Christopher; Armean, Irina M.; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M.; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Lehtimäki, Terho; Mattila, Kari M.; Suvisaari, Jaana (28.05.2020)
      article
      Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of ...

    • A structural variation reference for medical and population genetics 

      Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Collins, Ryan L.; Brand, Harrison; Karczewski, Konrad J.; Zhao, Xuefang; Alföldi, Jessica; Francioli, Laurent; Khera, Amit V.; Lowther, Chelsea; Gauthier, Laura D.; Wang, Harold; Watts, Nicholas A.; Solomonson, Matthew; O’Donnell-Luria, Anne; Baumann, Alexander; Munshi, Ruchi; Walker, Mark; Whelan, Christopher W.; Huang, Yongqing; Brookings, Ted; Sharpe, Ted; Stone, Matthew R.; Valkanas, Elise; Fu, Jack; Tiao, Grace; Laricchia, Kristen M.; Ruano-Rubio, Valentin; Stevens, Christine; Gupta, Namrata; Cusick, Caroline; Margolin, Lauren; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M.; Covarrubias, Miguel; Cummings, Beryl; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Lehtimäki, Terho; Mattila, Kari M.; Suvisaari, Jaana (27.05.2020)
      article
      Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown ...

    • Transcript expression-aware annotation improves rare variant interpretation 

      Genome Aggregation Database Production Team; Genome Aggregation Database Consortium; Cummings, Beryl B.; Karczewski, Konrad J.; Kosmicki, Jack A.; Seaby, Eleanor G.; Watts, Nicholas A.; Singer-Berk, Moriel; Mudge, Jonathan M.; Karjalainen, Juha; Satterstrom, F. Kyle; O’Donnell-Luria, Anne H.; Poterba, Timothy; Seed, Cotton; Solomonson, Matthew; Alföldi, Jessica; Armean, Irina M.; Banks, Eric; Bergelson, Louis; Cibulskis, Kristian; Collins, Ryan L.; Connolly, Kristen M.; Covarrubias, Miguel; Daly, Mark J.; Donnelly, Stacey; Farjoun, Yossi; Ferriera, Steven; Francioli, Laurent; Gabriel, Stacey; Gauthier, Laura D.; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Laricchia, Kristen M.; Llanwarne, Christopher; Minikel, Eric V.; Munshi, Ruchi; Neale, Benjamin M.; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Lehtimäki, Terho; Mattila, Kari M.; Suvisaari, Jaana (28.05.2020)
      article
      The acceleration of DNA sequencing in samples from patients and population studies has resulted in extensive catalogues of human genetic variation, but the interpretation of rare genetic variants remains problematic. A ...