Efficient Genome-wide Association in Biobanks Using Topic Modeling Identifies Multiple Novel Disease Loci

McCoy, Thomas H.; Castro, Victor M.; Snapper, Leslie A.; Hart, Kamber L.; Perlis, Roy H.

doi:10.2119/molmed.2017.00100

Molecular Medicine

Table 2 Diagnostic codes loading on topics associated with p < 1e-

From: Efficient Genome-wide Association in Biobanks Using Topic Modeling Identifies Multiple Novel Disease Loci

Topic 01	Topic 07	Topic 09	Topic 16	Topic 19	Topic 22	Topic 24	Topic 25	Topic 40
Disorders of adrenal glands	Psoriasis and related disorders	Other anemias	Erythematous conditions	Chronic airway obstruction	Uterine cancer	Rheumatoid arthritis and related inflammatory polyarthropathies	Disorders of the pituitary gland and its hypothalamic control	Secondary malignant neoplasm
Fracture of ankle and foot	Human immunodeficiency virus	Fracture of upper limb	Other conditions of the mother complicating pregnancy	Diseases of pancreas	Benign neoplasm of other parts of digestive system	Inflammatory spondylopathies	Benign neoplasm of other endocrine glands	Colorectal cancer
Disorders of fluid electrolyte and acid-base balance	Viral infection	Disorders of mineral metabolism	Indications for care or intervention related to labor and delivery (not elsewhere classified)	Cystic fibrosis	Endometrial hyperplasia		Radiotherapy	Cancer of other female genital organs
Symptoms involving skin and other integumentary tissue	Disorders of the autonomic nervous system	Iron deficiency anemias not otherwise specified	Known or suspected fetal abnormality	Pneumonia	Benign neoplasm of colon		Neoplasm of uncertain behavior	Chemotherapy
Pernicious or B12 deficiency anemia	Viral warts and human papillomavirus	Myeloproliferative disease	Hypertension complicating pregnancy	Tobacco use disorder	Cancer of other female genital organs		Disorders of adrenal glands	Radiotherapy
Other disorders of the kidney and ureters	Tobacco use disorder	Gastrointestinal hemorrhage	Disorders of menstruation	Other diseases of lung	Diseases of esophagus		Cancer of other endocrine glands	Cancer of the digestive organs and peritoneum
Urinary tract infection	Hereditary and idiopathic peripheral neuropathy	Malaise and fatigue	Other high-risk pregnancy	Abdominal pain	Nausea and vomiting		Effects of radiation not otherwise specified	Cancer suspected or other
Abdominal pain		Diseases of blood and blood-forming organs	Early or threatened labor; hemorrhage in early pregnancy	Osteoporosis osteopenia and pathological fractures	Postoperative infection		Testicular dysfunction	Pancreatic cancer
Genitourinary congenital anomalies		Chromosomal anomalies and genetic disorders	Parkinson’s disease		Other disorders of the kidney and ureters		Benign neoplasm of brain and other parts of nervous system	Diseases of blood and blood-forming organs
Disorders of function of stomach		Pernicious or B12-deficiency anemia	Miscarriage; stillbirth		Neoplasm of unspecified nature of digestive system		Hypothyroidism	Neoplasm of unspecified nature of digestive system
Musculoskeletal symptoms referable to limbs		Fracture of hand or wrist	Other complications of pregnancy (not elsewhere classified)		Other disorders of intestine		Other headache syndromes	Disorders of fluid electrolyte and acid-base balance
Hydronephrosis		Pneumonia	Problems associated with amniotic cavity and membranes
Urinary calculus		Immune disorders	Abnormality pelvic soft tissues and organs complicating pregnancy
Anxiety phobic and dissociative disorders		Disorders of fluid electrolyte and acid-base balance	Symptoms affecting skin
Vitamin deficiency			Hemorrhage during pregnancy, childbirth and postpartum
Tobacco use disorder

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ISSN: 1528-3658

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