S
Sebastian Schoenherr
Researcher at Innsbruck Medical University
Publications - 19
Citations - 6909
Sebastian Schoenherr is an academic researcher from Innsbruck Medical University. The author has contributed to research in topics: Imputation (genetics) & Founder effect. The author has an hindex of 10, co-authored 18 publications receiving 4252 citations. Previous affiliations of Sebastian Schoenherr include University of Santiago de Compostela & University of Innsbruck.
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South Asian patient population genetics reveal strong founder effects and high rates of homozygosity - new resources for precision medicine
Jeffrey D. Wall,J. Fah Sathirapongsasuti,Ravi Gupta,Anamitra Barik,Rajesh Kumar Rai,Rajesh Kumar Rai,Asif Rasheed,Venkatesan Radha,Saurabh Belsare,Ramesh Menon,Sameer Phalke,Anuradha Mittal,John Fang,Deepak Tanneeru,Jacqueline Robinson,Ruchi Chaudhary,Christian Fuchsberger,Christian Fuchsberger,Lukas Forer,Sebastian Schoenherr,Qixin Bei,Tushar Bhangale,Jennifer Tom,Santosh Gopi Krishna Gadde,B. V. Priya,Naveen Kumar Naik,Minxian Wang,Pui-Yan Kwok,Amit Khera,Amit Khera,B. R. Lakshmi,Adam S. Butterworth,John Danesh,Sekar Seshagiri,Sekar Kathiresan,Arkasubhra Ghosh,Virinder Mohan,Abhijit Chowdhury,Danish Saleheen,Eric Stawiski,Andrew S. Peterson +40 more
TL;DR: Estimated population structure in South Asia is characterized and founder effects that increase the power to associate functional variants with disease processes and that make South Asia a uniquely powerful place for population-scale genetic studies are described.
Journal ArticleDOI
South Asian Patient Population Genetics Reveal Strong Founder Effects and High Rates of Homozygosity – New Resources for Precision Medicine
Jeffrey D. Wall,J. Fah Sathirapongsasuti,Ravi Gupta,Anamitra Barik,Rajesh Kumar Rai,Asif Rasheed,Venkatesan Radha,Saurabh Belsare,Ramesh Menon,Sameer Phalke,Anuradha Mittal,John Fang,Deepak Tanneeru,Manjari Deshmukh,Akshi Bassi,Jacqueline Robinson,Ruchi Chaudhary,Zameer-ul Asar,Imran Saleem,Unzila Ishtiaq,Areej Fatima,Saqib Shafi Sheikh,Shahid Hameed,M. Ishaq,Syed Zahed Rasheed,Fazal-ur-Rehman Memon,Anjum Jalal,Shahid Abbas,Philippe Frossard,Christian Fuchsberger,Lukas Forer,Sebastian Schoenherr,Qixin Bei,Tushar Bhangale,Jennifer Tom,Santosh Gopi Krishna Gadde,B. V. Priya,Naveen Kumar Naik,Minxian Wang,Pui-Yan Kwok,Amit Khera,B. R. Lakshmi,Adam S. Butterworth,Rajiv Chowdhury,John Danesh,Emanuele Di Angelantonio,Aliya Naheed,Sekar Seshagiri,Sekar Kathiresan,Arkasubhra Ghosh,Virinder Mohan,Abhijit Chowdhury,Danish Saleheen,Eric Stawiski,Andrew S. Peterson +54 more
TL;DR: This paper used whole genome sequence information from 4,807 individuals recruited in the health care delivery systems of Pakistan, India and Bangladesh to ensure relevance to population-scale studies of disease genetics, finding evidence for high rates of reproductive isolation, endogamy and consanguinity that vary across the subcontinent and that lead to levels of homozygosity that reach 100 times that seen in outbred populations.
Journal ArticleDOI
Cloudflow - enabling faster biomedical pipelines with MapReduce and Spark
Lukas Forer,Enis Afgan,Hansi Weissensteiner,Davor Davidović,Guenther Specht,Florian Kronenberg,Sebastian Schoenherr +6 more
TL;DR: The extension of Cloudfl ow to support Apache Spark without any adaptions to already implemented pipelines is described, demonstrating that Spark can bring an additional boost for analysing next generation sequencing (NGS) data to the field of genetics.
Journal ArticleDOI
South Asian medical cohorts reveal strong founder effects and high rates of homozygosity
Jeffrey D. Wall,J. Fah Sathirapongsasuti,Ravi Gupta,Asif Rasheed,Radha Venkatesan,Saurabh Belsare,Ramesh Menon,Sameer Phalke,Anuradha Mittal,J X Fang,Deepak Tanneeru,Manjari Deshmukh,Akshi Bassi,Jacqueline Robinson,Ruchi Chaudhary,Sakthivel Murugan,Z. ul-Asar,Areej Fatima,Saqib Shafi Sheikh,Shahid Hameed,Syed Zahed Rasheed,Fazal-ur-Rehman Memon,Anjum Jalal,Shahid Abbas,Philippe M. Frossard,Christian Fuchsberger,Lukas Forer,Sebastian Schoenherr,Qixin Bei,Tushar Bhangale,Jennifer Tom,Santosh Gopi Krishna Gadde,Priya B V,Naveen Kumar Naik,Minxian Wang,Pui-Yan Kwok,Amit Khera,B R Lakshmi,Adam S. Butterworth,Rajiv Chowdhury,John Danesh,Emanuele Di Angelantonio,Aliya Naheed,Vinay Goyal,Rukmini Mridula Kandadai,Hrishikesh Kumar,Rupam Borgohain,Adreesh Mukherjee,Pettarusp M. Wadia,Ravi Yadav,Soaham Desai,Niraj Kumar,Atanu Biswas,P. K. Patel,Uday B. Muthane,Shymal Kumar Das,Vedam L. Ramprasad,Prashanth L. Kukkle,Somasekar Seshagiri,Sekar Kathiresan,Arkasubhra Ghosh,Viswanathan Mohan,Danish Saleheen,Eric Stawiski,Andrew S. Peterson +64 more
TL;DR: In this article , the authors describe whole genome sequence (WGS) data from 4806 individuals recruited from the healthcare delivery systems of Pakistan, India and Bangladesh, combined with WGS from 927 individuals from isolated South Asian populations.