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Author:

Basile, Anna Okula

Title:

CONTINUING TO SEARCH FOR THE MISSING HERITABILITY USING BIOLOGICALLY-INSPIRED AND DATA-DRIVEN APPROACHES

Graduate Program:

Biochemistry, Microbiology, and Molecular Biology

Keywords:

human genetics
complex disease
machine learning
informatics
pattern recognition
rare variants
missing heritability

File:

Download Basile_PhD_Dissertation_Revisions_Final_022118.pdf

Committee Members:

Marylyn Deriggi Ritchie, Dissertation Advisor/Co-Advisor
Marylyn Deriggi Ritchie, Committee Chair/Co-Chair
Santhosh Girirajan, Committee Member
Ross Cameron Hardison, Committee Member
George H Perry, Outside Member

Author:

Hughey, Jordan

Title:

In-silico modeling gene expression utilizing genomic activity and 3D contact information

Graduate Program:

Bioinformatics and Genomics (PhD)

Keywords:

gene regulation
transcriptome
association studies
machine learning
epigenomics
epigenetics

File:

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Committee Members:

Dajiang Liu, Chair & Dissertation Advisor
Shaun Mahony, Major Field Member
James Broach, Outside Unit & Field Member
Santhosh Girirajan, Major Field Member
George H Perry, Program Head/Chair

Author:

Liu, Zhihan

Title:

Novel machine learning methods for interpreting human genetic variants

Graduate Program:

Molecular, Cellular, and Integrative Biosciences (PHD)

Keywords:

machine learning
copy number variation
de novo mutation
pathogenicity prediction
penetrance estimation

File:

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Committee Members:

Melissa Rolls, Program Head/Chair
Qunhua Li, Outside Unit & Minor Member
Mingfu Shao, Outside Field Member
Dajiang Liu, Outside Unit Member
Shaun Mahony, Major Field Member
Santhosh Girirajan, Chair & Dissertation Advisor

Author:

Manickavasagam Pounraja, Vijay Kumar

Title:

Computational methods for dissecting the genetic basis of neurodevelopmental disorders

Graduate Program:

Bioinformatics and Genomics (PhD)

Keywords:

exome-sequencing
CNV
machine learning
rare variant genetics
genomics
neurodevelopmental disorders
random forest
apriori algorithm
rare combinations
combinatorial analysis

File:

Download Vijay_Kumar_Dissertation.pdf

Committee Members:

Naomi Altman, Major Field Member
Vasant Honavar, Outside Field Member
Yifei Huang, Major Field Member
Santhosh Girirajan, Chair & Dissertation Advisor
Reka Albert, Outside Unit Member
George Perry, Program Head/Chair