Publication > Page 37
  • Genome Biology  ·  November 10, 2020

    Massive gene presence-absence variation shapes an open pan-genome in the Mediterranean mussel.

    Marco Gerdol, Rebeca Moreira, Fernando Cruz, Jessica Gómez-Garrido, Anna Vlasova, Umberto Rosani, Paola Venier, Miguel A. Naranjo-Ortiz, Maria Murgarella, Samuele Greco, Pablo Balseiro, André Corvelo, Leonor Frias, Marta Gut, Toni Gabaldón, Alberto Pallavicini, Carlos Canchaya, Beatriz Novoa, Tyler S. Alioto, David Posada and Antonio Figueras

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  • Current Genetic Medicine Reports  ·  November 7, 2020

    Genetics of Amyotrophic Lateral Sclerosis.

    Jenna M. Gregory, Delphine Fagegaltier, Hemali Phatnani & Matthew B. Harms

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  • Nature Communications  ·  October 30, 2020

    Optimized design of single-cell RNA sequencing experiments for cell-type-specific eQTL analysis.

    Mandric I, Schwarz T, Majumdar A, Hou K, Briscoe L, Perez R, Subramaniam M, Hafemeister C, Satija R, Ye CJ, Pasaniuc B, Halperin E.

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  • American Journal of Human Genetics  ·  October 26, 2020

    Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.

    Laura M Amendola, Kathleen Muenzen, Leslie G Biesecker, Kevin M Bowling, Greg M Cooper, Michael O Dorschner, Catherine Driscoll, Ann Katherine M Foreman, Katie Golden-Grant, John M Greally, Lucia Hindorff, Dona Kanavy , Vaidehi Jobanputra, Jennifer J Johnston, Eimear E Kenny, Shannon McNulty, Priyanka Murali, Jeffrey Ou, Bradford C Powell, Heidi L Rehm, Bradley Rolf, Tamara S Roman, Jessica Van Ziffle, Saurav Guha, Avinash Abhyankar, David Crosslin, Eric Venner, Bo Yuan, Hana Zouk, CSER Sequencing and Diagnostic Yield working group; Gail P Jarvik

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  • Nature  ·  October 23, 2020

    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.

    Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, Mathew S. Lebo, Jillian G. Buchan, Steven M. Harrison, Ross Rowsey, Eric W. Klee, Pengfei Liu, Elizabeth A. Worthey, Vaidehi Jobanputra, David Dimmock, Hutton M. Kearney, David Bick, Shashikant Kulkarni, Stacie L. Taylor, John W. Belmont, Dimitri J. Stavropoulos, Niall J. Lennon & Medical Genome Initiative

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  • The Journal of Molecular Diagnostics  ·  October 23, 2020

    Detection of Copy Number Variants by Short Multiply Aggregated Sequence Homologies.

    Vaidehi Jobanputra, Peter Andrews, Vanessa Felice, Avinash Abhyankar, Lukasz Kozon, Dino Robinson, Ferrah London, Inessa Hakker, Kazimierz Wrzeszczynski, Michael Ronemus

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  • Journal of Investigative Dermatology  ·  October 19, 2020

    Targeted knockout of β-catenin in adult melanocyte stem cells using a mouse line, Dct::CreERT2, results in disrupted stem cell renewal and pigmentation defects.

    Madeleine Le. Coz, Zackie Aktary, Natsuki Watanabe, Ichiro Yajima, Marie Pouteaux, Nisamanee Charoenchon, Tsutomu Motohashi, Takahiro Kunisada, André Corvelo, Lionel Larue

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  • Nature Communications  ·  October 14, 2020

    Whole genome sequence analysis of pulmonary function and COPD in 19,996 multi-ethnic participants.

    Zhao X, Qiao D, Yang C, Kasela S, Kim W, Ma Y, Shrine N, Batini C, Sofer T, Taliun SAG, Sakornsakolpat P, Balte PP, Prokopenko D, Yu B, Lange LA, Dupuis J, Cade BE, Lee J, Gharib SA, Daya M, Laurie CA, Ruczinski I, Cupples LA, Loehr LR, Bartz TM, Morrison AC, Psaty BM, Vasan RS, Wilson JG, Taylor KD, Durda P, Johnson WC, Cornell E, Guo X, Liu Y, Tracy RP, Ardlie KG, Aguet F, VanDenBerg DJ, Papanicolaou GJ, Rotter JI, Barnes KC, Jain D, Nickerson DA, Muzny DM, Metcalf GA, Doddapaneni H, Dugan-Perez S, Gupta N, Gabriel S, Rich SS, O’Connor GT, Redline S, Reed RM, Laurie CC, Daviglus ML, Preudhomme LK, Burkart KM, Kaplan RC, Wain LV, Tobin MD, London SJ, Lappalainen T, Oelsner EC, Abecasis GR, Silverman EK, Barr RG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Lung Working Group, Cho MH, Manichaikul A.

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