Author

Sneha Sawant

Indian Council of Medical Research

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abhinav K. JainiD· 1 shared Anoop KumariD· 1 shared Aparna Dhondi DalviiD· 1 shared Athulya EdavazhippurathiD· 1 shared Atul KashyapiD· 1 shared Geeta Madathil GovindarajiD· 1 shared Krishnan Chakkiyar· 1 shared Manisha Rajan MadkaikariD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abhinav K. JainORCID

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1 paper

Recent·Most cited

Whole Genome Sequencing identifies novel structural variant in a large Indian family affected with X - linked agammaglobulinemia

Abhinav K. Jain, Geeta Madathil Govindaraj, Athulya Edavazhippurath, Nabeel Valappil Faisal, Rahul C. Bhoyar, Vishu Gupta, Ramya Uppuluri, Shiny Padinjarayil Manakkad, Atul Kashyap, Anoop Kumar, Mohit Kumar Divakar, Mohamed Imran, Sneha Sawant, Aparna Dhondi Dalvi, Krishnan Chakkiyar, , Vinod Scaria

The paper identifies a novel 5,296 bp deletion in the BTK gene in an Indian family with X-linked agammaglobulinemia through whole genome sequencing and carrier screening.

PLoS ONE · Jul 12, 2021Peer-reviewedGenetic & Genomic Medicine