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  1. Article: Recessive variants in the intergenic

    Buerger, Florian / Salmanullah, Daanya / Liang, Lorrin / Gauntner, Victoria / Krueger, Kavita / Qi, Maggie / Sharma, Vineeta / Rubin, Alexander / Ball, David / Lemberg, Katharina / Saida, Ken / Merz, Lea Maria / Sever, Sanja / Issac, Biju / Sun, Liang / Guerrero-Castillo, Sergio / Gomez, Alexis C / McNulty, Michelle T / Sampson, Matthew G /
    Al-Hamed, Mohamed H / Saleh, Mohammed M / Shalaby, Mohamed / Kari, Jameela / Fawcett, James P / Hildebrandt, Friedhelm / Majmundar, Amar J

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise genetic diagnoses and therapeutic discoveries, respectively. We previously discovered that variants ... ...

    Abstract In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise genetic diagnoses and therapeutic discoveries, respectively. We previously discovered that variants in
    Language English
    Publishing date 2024-03-21
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.03.17.24303374
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Recruitment, Consent and DNA Sample Acquisition in a U.S. Precision Health Cohort During the COVID-19 Pandemic

    Derry, Allyson M. / Strong, Yvette / Schioppo, Davia / Cotter, Joni / Wilkins, Geisa M. / Siquieros, Laura I. / Ouyang, Andrea / Hulseman, Kathleen / Petrosino, Joseph / Liang, Lorrin / Stevenson, Megan / Aguilera, Tiffany Elianne / Soto, Alexandria L. / Meurer, Katherin / Herman, Alison L. / Cohen, Inessa / Falcone, Guido J. / Longbrake, Erin E. / Ochoa Chaar, Cassius I. /
    Anastasio, Kelly M. / Murray, Michael F.

    medRxiv

    Abstract: Aim: The Yale Generations Project (YGP) is a precision health cohort initiative that began enrollment in New Haven Connecticut USA in July 2019. In March 2020, after nine months of operation, pandemic restrictions prompted abrupt changes to staff ... ...

    Abstract Aim: The Yale Generations Project (YGP) is a precision health cohort initiative that began enrollment in New Haven Connecticut USA in July 2019. In March 2020, after nine months of operation, pandemic restrictions prompted abrupt changes to staff availability as well as changes to the projects recruitment, consenting, and sample acquisition. This manuscript describes the successful addition of remote recruitment, consenting, and DNA sampling to YGP workflows during the initial 27-months of pandemic restrictions ending June 30, 2022. Methods: The initial YGP protocol established face-to-face workflow for recruiting, consenting and peripheral blood collection. A telemedicine consent protocol was initiated in April of 2020, and a remote saliva collection was established in October of 2020. De-identified data was extracted from YGP dataset and reported here. Results: At the completion of YGPs initial 36 months (9-months pre-pandemic and 27-months pandemic) YGP enrolled N=4949 volunteers. There were N=1,950 (216.7 per month) volunteers consented pre-pandemic and N=2,999 (111.1 per month) during pandemic. The peak consenting month was February 2020 with N=428. DNA sample acquisition peaked in the pre-pandemic month of February 2020 with N=291 peripheral blood draws, and in the pandemic period the peak DNA acquisition month was November 2020 with N=176 (N=68 peripheral blood draws and N=108 saliva samples). Conclusion: The YGP successfully transitioned from pre-pandemic recruiting, consenting and sample acquisition model that was exclusively face-to-face, to pandemic model that was predominantly remote. The added value of remote recruiting, consenting, and sampling has led to plans for an optimized hybrid model post-pandemic. Keywords: genomics, precision health, COVID-19, cohort
    Keywords covid19
    Language English
    Publishing date 2023-09-27
    Publisher Cold Spring Harbor Laboratory Press
    Document type Article ; Online
    DOI 10.1101/2023.09.25.23289158
    Database COVID19

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