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    • Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer.

    Publication Type: Academic Journal

    Source(s): Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2018 May 01; Vol. 115 (18), pp. 4767-4772. Date of Electronic Publication: 2018 Apr 18.

    Authors:

    Abstract: To evaluate whether germline variants in genes encoding pancreatic secretory enzymes contribute to pancreatic cancer susceptibility, we sequenced the coding regions of CPB1 and other genes encoding pancreatic secretory enzymes and known pancreatitis su...

    Assessment of Whole-Exome Sequence Data in Attempted Suicide within a Bipolar Disorder Cohort.

    Publication Type: Academic Journal

    Source(s): Molecular neuropsychiatry [Mol Neuropsychiatry] 2017 Jul; Vol. 3 (1), pp. 1-11. Date of Electronic Publication: 2017 Jan 18.

    Abstract: Suicidal behavior is a complex and devastating phenotype with a heritable component that has not been fully explained by existing common genetic variant analyses. This study represents the first large-scale DNA sequencing project designed to assess the...

    Exome Sequencing of Familial Bipolar Disorder.

    Publication Type: Academic Journal

    Source(s): JAMA psychiatry [JAMA Psychiatry] 2016 Jun 01; Vol. 73 (6), pp. 590-7.

    Abstract: Importance: Complex disorders, such as bipolar disorder (BD), likely result from the influence of both common and rare susceptibility alleles. While common variation has been widely studied, rare variant discovery has only recently become feasible with...

    Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.

    Publication Type: Academic Journal

    Source(s): Cancer discovery [Cancer Discov] 2016 Feb; Vol. 6 (2), pp. 166-75. Date of Electronic Publication: 2015 Dec 09.

    Abstract: Unlabelled: Pancreatic cancer is projected to become the second leading cause of cancer-related death in the United States by 2020. A familial aggregation of pancreatic cancer has been established, but the cause of this aggregation in most families is ...

    Validation and assessment of variant calling pipelines for next-generation sequencing.

    Publication Type: Academic Journal

    Source(s): Human genomics [Hum Genomics] 2014 Jul 30; Vol. 8, pp. 14. Date of Electronic Publication: 2014 Jul 30.

    Abstract: Background: The processing and analysis of the large scale data generated by next-generation sequencing (NGS) experiments is challenging and is a burgeoning area of new methods development. Several new bioinformatics tools have been developed for calli...

    A hybrid likelihood model for sequence-based disease association studies.

    Publication Type: Academic Journal

    Source(s): PLoS genetics [PLoS Genet] 2013; Vol. 9 (1), pp. e1003224. Date of Electronic Publication: 2013 Jan 24.

    Abstract: In the past few years, case-control studies of common diseases have shifted their focus from single genes to whole exomes. New sequencing technologies now routinely detect hundreds of thousands of sequence variants in a single study, many of which are ...

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