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Open AccessProtein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease
Obesity is a major risk factor for many common diseases and has a substantial heritable component. To identify new genetic determinants, we performed exome-sequence analyses for adult body mass index (BMI) in ...
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Open AccessAuthor Correction: Genoty**, sequencing and analysis of 140,000 adults from Mexico City
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Open AccessGenoty**, sequencing and analysis of 140,000 adults from Mexico City
The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City1. Here we generated genotype and ...
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Open AccessRare variant associations with plasma protein levels in the UK Biobank
Integrating human genomics and proteomics can help elucidate disease mechanisms, identify clinical biomarkers and discover drug targets1–4. Because previous proteogenomic studies have focused on common variation ...
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Open AccessAuthor Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
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Open AccessVariants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome. Here, we identify recessive ...
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Open AccessRare variant contribution to human disease in 281,104 UK Biobank exomes
Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution of rare variants to common disease remains relatively unexplored. The UK Biobank ...
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PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
A fundamental problem in rare-disease diagnostics is the lack of consensus as to which genes have sufficient evidence to attribute causation. To address this issue, we have created PanelApp (ht...
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Open AccessUsing familial information for variant filtering in high-throughput sequencing studies
High-throughput sequencing studies (HTS) have been highly successful in identifying the genetic causes of human disease, particularly those following Mendelian inheritance. Many HTS studies to date have been p...
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Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Kristijan Ramadan and colleagues report the identification of three individuals from two families with biallelic inactivating mutations in SPRTN causing early onset hepatocellular carcinoma and defects in the DNA...
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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
Samuel Berkovic and colleagues report the identification of missense mutations in KCNT1, which encodes a sodium-gated potassium channel, that cause severe autosomal dominant nocturnal frontal lobe epilepsy.
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Open AccessReducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes
Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate ca...
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Open AccessIdentification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort
The hepatitis C virus (HCV) infects nearly 3% of the World's population, causing severe liver disease in many. Standard of care therapy is currently pegylated interferon alpha and ribavirin (PegIFN/R), which i...
