nirantk/geneticsQA-train huggingface dataset:
Question: What is Uhl's anomaly?

Context:
Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle.
Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure
Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium.
Uhl's anomaly was first reported by Uhl in 1952 and is characterized by congenital partial or complete absence of right ventricular myocardium.
Uhls anomaly was first reported by Uhl in 1952 and is characterized by congenital partial or complete absence of right ventricular myocardium

Answer: uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle.
Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle.
Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle. Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure. 
Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle. Uhl's anomaly is an evolutive disease leading to terminal right ventricular failure
Uhl's anomaly is an extremely rare cardiac defect characterized by absence of the myocardium of the right ventricle.
Question: Which two drugs are included in the Harvoni pill?

Context:
Will Sofosbuvir/Ledipasvir (Harvoni) Be Cost-Effective and Affordable for Chinese Patients Infected with Hepatitis C Virus?
The developed method was applied to the analysis of the two drugs after a single oral administration of Harvoni 400/90 mg film-coated tablets containing 400 mg sofosbuvir and 90 mg ledipasvir to four healthy volunteers.
After the introductions of sofosbuvir (Sovaldi) and ledipasvir plus sofosbuvir (Harvoni) for the treatment of hepatitis C, employers have become very sensitive to new, and especially unforeseen, factors that significantly raise healthcare costs.
The single-tablet regimen of the hepatitis C virus (HCV) NS5A inhibitor ledipasvir and the HCV NS5B polymerase inhibitor sofosbuvir (ledipasvir/sofosbuvir; Harvoni(®)) was recently approved in the US and the EU. 
Ledipasvir/Sofosbuvir (harvoni): improving options for hepatitis C virus infection.
Ledipasvir/sofosbuvir (Harvoni): improving options for hepatitis C virus infection.
Also reviewed were recent practice guidelines on the management of HCV infections, prescribing information on all HCV drugs approved by the US Food and Drug Administration, and health technology assessments of Sovaldi® and Harvoni(TM) (sofosbuvir/ledipasvir).
Ledipasvir/Sofosbuvir (harvoni): improving options for hepatitis C virus infection.
This review will summarize the data regarding these interferon-free regimens, including Gilead's Harvoni (sofosbuvir/ledipasvir), AbbVie's Viekira Pak (paritaprevir/ritonavir/ombitasvir with dasabuvir), and Janssen's Olysio (simeprevir) with sofosbuvir.

Answer: Harvoni contains 400 mg sofosbuvir and 90 mg ledipasvir. It used for treatment of hepatitis C virus infection.
Exact answer: sofosbuvir, ledipasvir
Question: Does  thyroid hormone receptor beta1 affect insulin secretion?

Context:
We demonstrated that thyroid hormone T3 rapidly induces Akt activation in pancreatic beta cells rRINm5F and hCM via thyroid hormone receptor (TR) beta1.
The silencing of TRbeta1 expression through RNAi confirmed this receptor to be crucial for the T3-induced activation of Akt.
T3 is able to specifically activate Akt in the islet beta cells rRINm5F and hCM through the interaction between TRbeta1 and PI3K p85alpha, demonstrating the involvement of TRbeta1 in this novel T3 non-genomic action in islet beta cells.

Answer: No
Exact answer: no
Question: Which disease is associated with mutated Sox2?

Context:
Anophthalmia and microphthalmia (A/M) are developmental ocular malformations defined as the complete absence or reduction in size of the eye. A/M is a highly heterogeneous disorder with SOX2 and FOXE3 playing major roles in dominant and recessive pedigrees, respectively;
anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are the most frequent contributors to severe ODA, yet account for a minority of the genetic drivers.
Three causative SOX2 mutations were found in subjects with syndromic A.
SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia.

Answer: SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia.
Exact answer: SOX2 anophthalmia syndrome
Question: What is the genus for the common European honey bee?

Context:
European honey bee (Apis mellifera)
 European honey bees (Apis mellifera)
 European honey bees (Apis mellifera
 European honey bees, Apis mellifera

Answer: The genus and species of the European honey bee is Apis mellifera.
Exact answer: Apis
Question: Which is the definition of pyknons in DNA?

Context:
Among the millions of discovered patterns, we found a subset of 127,998 patterns, termed pyknons, which have additional nonoverlapping instances in the untranslated and protein-coding regions of 30,675 transcripts from 20,059 human genes.
a nonrandom pattern of repeated elements, called pyknons, which are found more frequently in the 3' untranslated regions of genes than in other regions of the human genome
We discuss the general implications of molecular epigenetics with special emphasis on drug abuse, bar-codes, pyknons, and miRNAs for translational and clinical research
Here we report identification of ubiquitous template design sequences (templum intentio series, templints) of human genomes common for disease-associated SNPs, microRNAs and pyknons
We demonstrate that genome-unique SNP-coding sequences associated with multiple common human disorders appear assembled from series of ubiquitous short octamer sequences shared by 5'-UTR pyknons and microRNAs
Allele-specific sequence variations link disease-associated SNPs to distinct sets of pyknons and microRNAs, suggesting that increased susceptibility to multiple common human disorders is associated with global alterations of genome-wide regulatory templates affecting the biogenesis and functions of non-coding RNAs
yknons are non-random sequence patterns significantly repeated throughout non-coding genomic DNA that also appear at least once among coding genes
Pyknons have only been discovered in the human genome, so it is unknown whether pyknons have wider biological relevance or are simply a phenomenon of the human genome
A. thaliana pyknons exhibit features similar to human pyknons, including being distinct sequence patterns, having multiple instances in genes and having remarkable similarity to small RNA sequences with roles in gene silencing
Chromosomal position mapping revealed that genomic pyknon density has concordance with siRNA and transposable element positioning density
Because the A. thaliana and human genomes have approximately the same number of genes but drastically different amounts of non-coding DNA, these data reveal that pyknons represent a biologically important link between coding and non-coding DNA
Because of the association of pyknons with siRNAs and localization to silenced regions of heterochromatin, we postulate that RNA-mediated gene silencing leads to the accumulation of gene sequences in non-coding DNA regions
 The new GSCKs are produced by evolutionary consolidation of retro-transcripts into pyknons that collect and evolve at the end of the pericentromeric heterochromatin and are eventually incorporated into the MDP

Answer: Pyknons are non-random sequence patterns significantly repeated throughout non-coding genomic DNA, which have additional nonoverlapping instances in the untranslated and protein-coding regions. They are found more frequently in the 3' untranslated regions of genes than in other regions of the human genome.
Question: Is there an association between bruxism and reflux?

Context:
Sleep bruxism is prevalent in GERD patients, and GERD is highly associated with SB.
There was a statistical trend towards tooth wear progression being associated with gastric risk factors (p < 0.05). 
This article presents a case report of a 27-year-old male smoker with tooth wear and dentin sensitivity caused by GERD associated with bruxism. 
The aim of this cross-over, randomized, single-blinded trial was to examine whether intra-esophageal acidification induces sleep bruxism (SB). 
RMMA episodes including SB were induced by esophageal acidification. 
Chronic regurgitation of gastric acids in patients with gastroesophageal reflux disease may cause dental erosion, which can lead in combination with attrition or bruxism to extensive loss of coronal tooth tissue.
This clinical report describes treatment of severe tooth wear of a gastroesophageal reflux disease patient who is 54-year-old Turkish male patient. After his medical treatment, severe tooth wear, bruxism and decreased vertical dimensions were determined. 
Gastroesophageal reflux disease by itself or in combination with attrition, abrasion or bruxism may be responsible for the loss.
The association between bruxism, feeding and smoking habits and digestive disorders may lead to serious consequences to dental and related structures, involving dental alterations (wear, fractures and cracks), periodontal signs (gingival recession and tooth mobility) and muscle-joint sensitivity, demanding a multidisciplinary treatment plan. This paper presents a case report in which bruxism associated with acid feeding, smoking habit and episodes of gastric reflow caused severe tooth wear and great muscular discomfort with daily headache episodes. 
The frequencies of RMMA, single short-burst, and clenching episodes were significantly higher during decreased esophageal pH episodes than those during other times. 
These results suggest that most jaw muscle activities, ie, RMMA, single short-burst, and clenching episodes, occur in relation to gastroesophageal reflux mainly in the supine position.
Nocturnal bruxism may be secondary to nocturnal gastroesophageal reflux, occurring via sleep arousal and often together with swallowing.

Answer: Yes, bruxism is associated with reflux. Sleep bruxism is prevalent in GERD patients.
Exact answer: yes
Question: In which diseases have electronic patient diaries been applied ?

Context:
WiiPD is an approach for the objective home based assessment of Parkinson's disease which utilizes the intuitive and sensor rich Nintendo Wii Remote. Combined with an electronic patient diary, a suite of mini-games, a metric analyzer, and a visualization engine, we propose that this system can complement existing clinical practice by providing objective metrics gathered frequently over extended periods of time.
This research paper examines the challenges in the development and adoption of an electronic patient diary within the Pathways Home for Respiratory Illness Project
This project supported community-based patients suffering from chronic obstructive pulmonary disease (COPD) to achieve increased levels of self-management and self-efficacy using electronic-monitoring techniques and mentoring by community health nurses.
Instead of measuring physiological parameters, a Smartphone based Personal Allergy Assistant (PAA) allows patients to keep an electronic patient diary by scanning the barcode of the consumed food products.
Telemedicine assisted diet and diagnosis management in food hypersensitivity
The Flushing ASsessment Tool (FAST) was developed to assess flushing symptoms and their impact on patients receiving niacin therapy.
 This was a prospective, randomized, double-blind, placebo-controlled, parallel-group 8-week study conducted to evaluate the psychometric characteristics of the FAST. The instrument is administered daily using an electronic patient diary.
Haemoassist--a hand-held electronic patient diary for haemophilia home care.
A comparison of self-documentation in diabetics: electronic versus paper diaries.
Subjects with self-perceived heartburn without known gastrointestinal disease or interfering treatments were selected with questionnaires. The study was performed unsupervised, whenever heartburn required medication. An electronic patient diary gave instructions when to take study medication
Self-medication of a single headache episode with ketoprofen, ibuprofen or placebo, home-monitored with an electronic patient diary.

Answer: Parkinson's disease
COPD
Food hypersensitivity
Niacin induced flushing
Hemophilia
Heartburn
Headache
Exact answer: Parkinson's disease, COPD, Chronic  obstructive pulmonary disease, Chronic Obstructive Airways Disease, Chronic Obstructive Lung Disease, Food hypersensitivity, Allergy, Niacin induced flushing, Hemophilia, Heartburn, Reflux, GERD, Esophageal reflux, Headache, Migraine, migraine headache, Migraine Disorder, Migraine Headaches
Question: Which library is used for fixed-length approximate string matching?

Context:
libFLASM: a software library for fixed-length approximate string matching.
We present and make available libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models. Moreover we describe how fixed-length approximate string matching is applied to solve real problems by incorporating libFLASM into established applications for multiple circular sequence alignment as well as single and structured motif extraction. Specifically, we describe how it can be used to improve the accuracy of multiple circular sequence alignment in terms of the inferred likelihood-based phylogenies; and we also describe how it is used to efficiently find motifs in molecular sequences representing regulatory or functional regions. The comparison of the performance of the library to other algorithms show how it is competitive, especially with increasing distance thresholds.
Fixed-length approximate string matching is a generalisation of the classic approximate string matching problem. We present libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching. The extensive experimental results presented here suggest that other applications could benefit from using libFLASM, and thus further maintenance and development of libFLASM is desirable
libFLASM: a software library for fixed-length approximate string matching.
We present libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching.
We present and make available libFLASM, a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models.
Moreover we describe how fixed-length approximate string matching is applied to solve real problems by incorporating libFLASM into established applications for multiple circular sequence alignment as well as single and structured motif extraction.

Answer: libFLASM is a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models.
Exact answer: libFLASM
Question: Which are the cardiac manifestations of Marfan syndrome?

Context:
Cardiac manifestations of Marfan syndrome include aortic root dilation and mitral valve prolapse (MVP).
Marfan syndrome (MFS) is a genetic disorder of the connective tissue. Aortic root dilation is a main criterion of the Ghent Nosology. Dural ectasia and the presence of mitral valve prolapse (MVP) contribute to its systemic score.
The typical cardiac manifestations of Marfan syndrome are aortic regurgitation with progressive dilatation of the aortic root, which may cause dissection and rupture of the ascending aorta, mitral valve prolapse and mitral valve regurgitation.
To describe the clinical cardiac manifestations and temporal evolution of Marfan syndrome in children; to estimate the incidence of annuloaortic ectasia and mitral valve prolapse
the presence of mitral valve prolapse, aortic root diameter, mitral and aortic valves regurgitation, and aortic enlargement during beta-blocker therapy
Cardiovascular manifestations in Marfan syndrome.
The major cardiac diagnoses were aortic dilatation (1/3) and mitral valve prolapse with severe mitral regurgitation (2/3).
Marfan syndrome is a hereditable disorder of connective tissue that causes several distinct cardiovascular abnormalities, including aortic regurgitation, dissection, and aneurysm.

Answer: Cardiac manifestations of Marfan syndrome include aortic root dilation,aortic regurgitation, mitral valve prolapse and mitral valve regurgitation.
Exact answer: aortic root dilation, mitral valve prolapse, aortic regurgitation, mitral valve regurgitation
Question: Which human disease is associated with mutated UBQLN2

Context:
Finally, we found that mutations in UBQLN2, which lead to neurodegeneration in humans, are defective in chaperone binding, impair aggregate clearance, and cause cognitive deficits in mice.
UBQLN2 mutations are detected in ALS cases.
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand
Missense mutations in ubiquilin 2 (UBQLN2) cause ALS with frontotemporal dementia (ALS-FTD). 
Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10 % of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others.
A mutation in the ubiquilin 2 gene (UBQLN2) was recently identified as a cause of X-linked amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) 
Interest in the proteins has been heightened by the discovery that gene mutations in UBQLN2 cause dominant inheritance of amyotrophic lateral sclerosis (ALS).

Answer: Ggene mutations in UBQLN2 cause dominant inheritance of amyotrophic lateral sclerosis (ALS).
Exact answer: ALS, amyotrophic lateral sclerosis
Question: What is the role of 3,4-diaminobenzoic acid derivatives in the immune system?

Context:
3,4-diaminobenzoic acid derivatives as inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties.
Members of the oxytocinase subfamily of M1 aminopeptidases (ERAP1, ERAP2, and IRAP) play important roles in both the adaptive and innate human immune responses. Their enzymatic activity can contribute to the pathogenesis of several major human diseases ranging from viral and parasitic infections to autoimmunity and cancer. We have previously demonstrated that diaminobenzoic acid derivatives show promise as selective inhibitors for this group of aminopeptidases. In this study, we have thoroughly explored a series of 3,4-diaminobenzoic acid derivatives as inhibitors of this class of enzymes, achieving submicromolar inhibitors for ERAP2 (IC50 = 237 nM) and IRAP (IC50 = 105 nM). Cell-based analysis indicated that the lead compounds can be effective in downregulating macrophage activation induced by lipopolysaccharide and interferon-γ as well as cross-presentation by bone marrow-derived dendritic cells. Our results indicate that this class of inhibitors may be useful for the targeted downregulation of immune responses.
3,4-diaminobenzoic acid derivatives as inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties
Members of the oxytocinase subfamily of M1 aminopeptidases (ERAP1, ERAP2, and IRAP) play important roles in both the adaptive and innate human immune responses.
3,4-diaminobenzoic acid derivatives as inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties.

Answer: 3,4-diaminobenzoic acid derivatives are inhibitors of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties. Cell-based analysis indicated that the lead compounds can be effective in downregulating macrophage activation induced by lipopolysaccharide and interferon-γ as well as cross-presentation by bone marrow-derived dendritic cells.
Exact answer: Inhibition of the oxytocinase subfamily of M1 aminopeptidases with immune-regulating properties.
Question: Name monoclonal antibody against SLAMF7.

Context:
BACKGROUND: Elotuzumab, an immunostimulatory monoclonal antibody targeting signaling lymphocytic activation molecule F7 (SLAMF7), showed activity in combination with lenalidomide and dexamethasone in a phase 1b-2 study in patients with relapsed or refractory multiple myeloma.
Elotuzumab is a humanized monoclonal antibody specific for signaling lymphocytic activation molecule-F7 (SLAMF7, also known as CS1, CD319, or CRACC) that enhances natural killer (NK) cell-mediated antibody-dependent cellular cytotoxicity (ADCC) of SLAMF7-expressing myeloma cells.
This led to development of an anti-SLAMF7 antibody, elotuzumab, showing efficacy against MM.
One of the most promising MoAb is elotuzumab, the only humanized IgG1 MoAb specifically targeting CS1 (SLAMF7), a cell surface glycoprotein that is highly expressed in plasma cells. 
This led to development of an anti-SLAMF7 antibody, elotuzumab, showing efficacy against MM.
Elotuzumab is a humanized monoclonal antibody specific for signaling lymphocytic activation molecule-F7 (SLAMF7, also known as CS1, CD319, or CRACC) that enhances natural killer (NK) cell-mediated antibody-dependent cellular cytotoxicity (ADCC) of SLAMF7-expressing myeloma cells.
 New agents are awaited for the treatment of multiple myeloma and research is ongoing for the development of monoclonal antibodies (MoAbs) targeting the tumor cells. One of the most promising MoAb is elotuzumab, the only humanized IgG1 MoAb specifically targeting CS1 (SLAMF7), a cell surface glycoprotein that is highly expressed in plasma cells.
This led to development of an anti-SLAMF7 antibody, elotuzumab, showing efficacy against MM.
Elotuzumab, an immunostimulatory monoclonal antibody targeting signaling lymphocytic activation molecule F7 (SLAMF7), showed activity in combination with lenalidomide and dexamethasone in a phase 1b-2 study in patients with relapsed or refractory multiple myeloma.

Answer: Elotuzumab is a humanized monoclonal antibody specific for signaling lymphocytic activation molecule-F7 (SLAMF7, also known as CS1, CD319, or CRACC) that enhances natural killer cell-mediated antibody-dependent cellular cytotoxicity of SLAMF7-expressing myeloma cells.
Exact answer: signaling lymphocytic activation molecule-F7