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Advanced Search Results For "Parla, Jennifer"

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 "Parla, Jennifer"
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Establishing the baseline level of repetitive element expression in the human cortex

Publication Type: Academic Journal

Source(s): BMC Genomics, Vol 12, Iss 1, p 495 (2011)

Abstract: Abstract Background Although nearly half of the human genome is comprised of repetitive sequences, the expression profile of these elements remains largely uncharacterized. Recently developed high throughput sequencing technologies provide us with a po...

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

Publication Type: Academic Journal

Source(s): PLoS Genetics, Vol 9, Iss 1, p e1003224 (2013)

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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Exome Sequencing of Familial Bipolar Disorder.

Publication Type: Academic Journal

Source(s): JAMA Psychiatry; Jun2016, Vol. 73 Issue 6, p590-597, 8p

Abstract: Copyright of JAMA Psychiatry is the property of American Medical Association and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, dow...

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

Publication Type: Academic Journal

Source(s): Human Genomics; 2014, Vol. 8 Issue 1, p14-23, 10p, 3 Diagrams, 1 Chart, 1 Graph

Abstract: Copyright of Human Genomics is the property of BioMed Central and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email...

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A comparative analysis of exome capture.

Publication Type: Academic Journal

Source(s): Genome Biology; 2011, Vol. 12 Issue 9, p1-17, 17p, 1 Diagram, 3 Charts, 7 Graphs

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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.

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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...

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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 ...

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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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