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Sergey Nejentsev

Researcher at University of Cambridge

Publications -  66
Citations -  9194

Sergey Nejentsev is an academic researcher from University of Cambridge. The author has contributed to research in topics: Tuberculosis & Single-nucleotide polymorphism. The author has an hindex of 37, co-authored 62 publications receiving 7948 citations. Previous affiliations of Sergey Nejentsev include Children's Mercy Hospital & University of Amsterdam.

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Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.

TL;DR: This work resequenced exons and splice sites of 10 candidate genes in pools of DNA from 480 patients and 480 controls and tested their disease association in over 30,000 participants to establish the role of IFIH1 and demonstrate that resequencing studies can pinpoint disease-causing genes in genomic regions initially identified by GWASs.
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A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

TL;DR: This analysis identified two novel causative deletions in the genes GATA2 and DOCK8 and introduced ExomeDepth, a new CNV calling algorithm designed to control for technical variability between samples in exome sequence data.
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Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A

Sergey Nejentsev, +221 more
- 06 Dec 2007 - 
TL;DR: In this article, the major histocompatibility complex (MHC) on chromosome 6 is associated with susceptibility to more common diseases than any other region of the human genome, including almost all disorders classified as autoimmune.
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Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage

TL;DR: Activated PI3K-δ syndrome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced glutamic acid at residue 1021 (E1021K) in the p110δ protein, the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ), encoded by the PIK3CD gene is described.