npj Genomic Medicine

Interpretation and reporting of clinical genome sequencing

Christina A. Austin-Tse
Vaidehi Jobanputra
Heidi L. Rehm

Review Article 08 April 2022

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A variant associated with idiopathic hypersomnia

A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia.
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Interpretation and reporting of clinical genome sequencing

Announcements

A variant associated with idiopathic hypersomnia

npj Genomic Medicine by numbers

ORCID Reviewer Recognition

Browse articles

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

A statistical perspective on baseline adjustment in pharmacogenomic genome-wide association studies of quantitative change

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance

Comprehensive characterization of posttranscriptional impairment-related 3′-UTR mutations in 2413 whole genomes of cancer patients

Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels

Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing

Nucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer

Trending - Altmetric

Events

EMBO | EMBL Symposium The complex life of RNA

EMBO | EMBL Symposium: The neurovascular interface

EMBO Practical Course: Metabolite and species dynamics in microbial communities

EMBO Practical Course: The fundamentals of high-end cell sorting

EMBO Workshop: Chemical biology 2022

Jobs

64564: Mechatronical Engineer, Mechanical Engineer, Aerospace Engineer or similar (f/m/x) - Development of methods for simulation-based certification for safety-critical aircraft systems

Seismologist - Ground Motion Modeller (f_m_x)

Postdoctoral Position in Advanced Biophysical Analysis (m/f/div)

Postdoctoral Associate, Cell Biology/Biochemistry - McCutcheon Lab

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Genes and genomes and unnecessary complexity in precision medicine

Accurate detection of circulating tumor DNA using nanopore consensus sequencing

A large data resource of genomic copy number variation across neurodevelopmental disorders

A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia

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