Author

Kari Hemminki

German Cancer Research CenterORCID 0000-0002-2769-3316Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Aayushi SrivastavaiD· 2 shared Abhishek KumariD· 2 shared Asta FörstiiD· 2 shared Nagarajan ParamasivamiD· 2 shared Obul Reddy BandapalliiD· 2 shared Beiping MiaoiD· 1 shared Dagmara DymerskaiD· 1 shared Diamanto Skopelitou· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenomics

Aayushi SrivastavaORCID

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2 papers

Recent·Most cited

GenomicsCancersPeer-reviewedJun 1, 2020

A novel germline mutation in the POT1 gene predisposes to familial non-medullary thyroid cancer

Aayushi Srivastava, Beiping Miao, Diamanto Skopelitou…·Obul Reddy Bandapalli

This study identifies a novel germline POT1 mutation (p.V29L) associated with familial non-medullary thyroid cancer and shows it causes telomere dysfunction.

41 citations

humanwhole-genome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineFrontiers in Bioengineering and BiotechnologyPeer-reviewedMar 5, 2020

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing

Aayushi Srivastava, Sara Giangiobbe, Abhishek Kumar…·Obul Reddy Bandapalli

This study uses whole genome sequencing to identify potential familial Hodgkin lymphoma predisposing genes in three families, finding a novel DICER1 variant in one family.

16 citations

humanwhole-genome sequencing

𝕏 PostBluesky