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Transcriptomic profile of adverse neurodevelopmental outcomes after neonatal encephalopathy

Nature Genetics, Sci Rep 10, 13100 (2020).

A rapid and early diagnostic test to identify the encephalopathic babies at risk of adverse outcome may accelerate the development of neuroprotectants. We examined if a whole blood transcriptomic signature measured soon after birth, predicts adverse neurodevelopmental outcome eighteen months after neonatal encephalopathy. We performed next generation sequencing on whole blood ribonucleic acid obtained within six hours of birth from the first 47 encephalopathic babies recruited to the Hypothermia for Encephalopathy in Low and middle-income countries (HELIX) trial.

  https://www.nature.com/articles/s41598-020-70131-w

Human ACE2 receptor polymorphisms predict SARS-CoV-2 susceptibility

bioRxiv, 2020.04.07.024752

Eric W Stawiski, Devan Diwanji, Kushal Suryamohan, Ravi Gupta, Frederic A Fellouse, Fah Sathirapongsasuti, Jiang Liu, Ying-Ping Jiang, Aakrosh Ratan, Monika Mis, Devi Santhosh, Sneha Somasekar, Sangeetha Mohan, Sameer Phalke, Boney Kuriakose, Aju Antony, Jagath R Junutula, Stephan C Schuster, Natalia Jura, Somasekar Seshagiri

In this study, we assessed if ACE2 polymorphisms might alter host susceptibility to SARS-CoV-2 by affecting the ACE2 S-protein interaction. Our comprehensive analysis of several large genomic datasets that included over 290,000 samples representing >400 population groups identified multiple ACE2 protein-altering variants, some of which mapped to the S-protein-interacting ACE2 surface.

  https://www.biorxiv.org/content/10.1101/2020.04.07.024752v1

The Indian cobra reference genome and transcriptome enables comprehensive identification of venom toxins.

Nature Genetics, volume 52, pages106–117 (2020)

Kushal Suryamohan, Sajesh P. Krishnankutty, Somasekar Seshagiri

Snakebite envenoming is a serious and neglected tropical disease that kills ~100,000 people annually. High-quality, genome-enabled comprehensive characterization of toxin genes will facilitate development of effective humanized recombinant antivenom. We report a de novo near-chromosomal genome assembly of Naja naja, the Indian cobra, a highly venomous, medically important snake.

  https://www.nature.com/articles/s41588-019-0559-8

The GenomeAsia 100K Project enables genetic discoveries across Asia

Nature, volume 576, pages106–111 (2019)

Jeffrey D. Wall, Eric W. Stawiski, Aakrosh Ratan, Hie Lim Kim, Changhoon Kim, Ravi Gupta, Kushal Suryamohan, Elena S. Gusareva, Rikky Wenang Purbojati, Tushar Bhangale, Vadim Stepanov, Vladimir Kharkov, Markus S. Schröder, Vedam Ramprasad, Jennifer Tom, Steffen Durinck, Qixin Bei, Jiani Li, Joseph Guillory, Sameer Phalke, Analabha Basu, Jeremy Stinson, Sandhya Nair, Sivasankar Malaichamy, Nidhan K. Biswas, John C. Chambers, Keith C. Cheng, Joyner T. George, Seik Soon Khor, Jong-Il Kim, Belong Cho, Ramesh Menon, Thiramsetti Sattibabu, Akshi Bassi, Manjari Deshmukh, Anjali Verma, Vivek Gopalan, Jong-Yeon Shin, Mahesh Pratapneni, Sam Santhosh, Katsushi Tokunaga, Badrul M. Md-Zain, Kok Gan Chan, Madasamy Parani, Purushothaman Natarajan, Michael Hauser, R. Rand Allingham, Cecilia Santiago-Turla, Arkasubhra Ghosh, Santosh Gopi Krishna Gadde, Christian Fuchsberger, Lukas Forer, Sebastian Schoenherr, Herawati Sudoyo, J. Stephen Lansing, Jonathan Friedlaender, George Koki, Murray P. Cox, Michael Hammer, Tatiana Karafet, Khai C. Ang, Syed Q. Mehdi, Venkatesan Radha, Viswanathan Mohan, Partha P. Majumder, Somasekar Seshagiri, Jeong-Sun Seo, Stephan C. Schuster & Andrew S. Peterson

The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world’s population. Population-specific reference genome datasets as well as genome-wide association studies in diverse populations are needed to address this issue. Here we describe the pilot phase of the GenomeAsia 100K Project. This includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia.

  https://www.nature.com/articles/s41586-019-1793-z
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