Inherited Disease

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

Brett / March 9, 2015

Type 1 diabetes (T1D) is a common autoimmune disorder with some genetic basis. T1D patients often suffer from additional autoimmune conditions, such as rheumatoid arthritis. This study identifies genes that confer risk for T1D, and finds some overlap between genetic risk profiles for T1D and other autoimmune disorders.

Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss

Age-related mutations and chronic myelomonocytic leukemia

Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 that Confer Risk for Type 1 Diabetes

Genetic variation may influence response to 17-alpha hydroxyprogesterone caproate (17P) for recurrent preterm birth (PTB) prevention

Gene set enrichment investigation of maternal exome variation in spontaneous preterm birth (SPTB)

Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Shared Segment Analysis and Next-Generation Sequencing Implicates the Retinoic Acid Signaling Pathway in Total Anomalous Pulmonary Venous Return (TAPVR).

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Identifying rare variants for genetic risk through a combined pedigree and phenotype approach: application to suicide and asthma.

Toolbox for mobile-element insertion detection on cancer genomes.

Novel somatic and germline mutations in intracranial germ cell tumours

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.

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