nirantk/geneticsQA-train huggingface dataset:
Question: Which gene is associated with the Mitchell-Riley syndrome?

Context:
Mutations in rfx6 were recently associated with Mitchell-Riley syndrome, which involves neonatal diabetes, and other digestive system defects. 
bi-allelic mutations in the transcription factor RFX6 were described as the cause of a rare condition characterized by neonatal diabetes with pancreatic and biliary hypoplasia and duodenal/jejunal atresia.

Answer: Mutations in the gene coding for the transcription factor RFX6 (regulatory factor X,6) have been described as the cause of the Mitchell-Riley syndrome.
Exact answer: RFX6
Question: What is  Achondroplasia?

Context:
Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism.
Physical basis behind achondroplasia, the most common form of human dwarfism
Achondroplasia is the best described and most common form of the congenital short-limbed dwarfing conditions. 

Answer: Achondrogenesis type II also known as  Achondroplasia  is an autosomal-dominant disease leading to severe micromelic dwarfism
Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism. 
Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism.
achondrogenesis type ii is an autosomal-dominant disease leading to severe micromelic dwarfism.
achondrogenesis type ii is an autosomal-dominant disease to severe micromelic dwarfism. . 
Exact answer: An autosomal dominant form of dwarfism
Question: Which is the main function of "RNA sponges"?

Context:
Pseudogene OCT4-pg4 functions as a natural micro RNA sponge to regulate OCT4 expression by competing for miR-145 in hepatocellular carcinoma
Mechanistic analysis revealed that OCT4-pg4 functions as a natural micro RNA sponge to protect OCT4 transcript from being inhibited by miR-145.
Natural RNA circles function as efficient microRNA sponges
Recently, miRNA activity has been shown to be affected by the presence of miRNA sponge transcripts, the so-called competing endogenous RNA in humans and target mimicry in plants.
Here we show that this circRNA acts as a miR-7 sponge; we term this circular transcript ciRS-7 (circular RNA sponge for miR-7). 
We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. 
Natural RNA sponges sequestering cellular noncoding RNA molecules have been found in diverse organisms.
n this issue, Lalaouna et al. (2015) report another type of RNA sponge, showing that stable intermediates of bacterial tRNA processing control endogenous small RNAs.
Circular RNAs can function as templates for viroid and viral replication, as intermediates in RNA processing reactions, as regulators of transcription in cis, as snoRNAs, and as miRNA sponges
Recent research has revealed that circRNAs can function as microRNA (miRNA) sponges, regulators of splicing and transcription, and modifiers of parental gene expression
This can involve RNA sponges that sequester regulatory RNAs of mRNAs in the same regulon, but the underlying molecular mechanism of such mRNA cross talk remains little understood. Here, we report sponge-mediated mRNA cross talk in the posttranscriptional network of GcvB, a conserved Hfq-dependent small RNA with one of the largest regulons known in bacteria. We show that mRNA decay from the gltIJKL locus encoding an amino acid ABC transporter generates a stable fragment (SroC) that base-pairs with GcvB. 
the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7,

Answer: Natural RNA circles function as efficient microRNA sponges. Recently, miRNA activity has been shown to be affected by the presence of miRNA sponge transcripts, the so-called competing endogenous RNA in humans and target mimicry in plants.
Recently, miRNA activity has been shown to be affected by the presence of miRNA sponge transcripts, the so-called competing endogenous RNA in humans and target mimicry in plants. Natural RNA sponges sequestering cellular noncoding RNA molecules have been found in diverse organisms. In this issue, Lalaouna et al. (2015) report another type of RNA sponge, showing that stable intermediates of bacterial tRNA processing control endogenous small RNAs. Furthermore, survival analysis suggests that high OCT4-pg4 level is significantly correlated with poor prognosis of HCC patients.
Question: List five applications of machine learning algorithms in medical diagnosis.

Context:
The ability to differentiate between brain tumor progression and radiation therapy induced necrosis is critical for appropriate patient management. I
Experimental results on public leukemia, prostate, and colon cancer datasets show that fuzzy support vector machine applied in combination with filter or wrapper feature selection methods develops a robust model with higher accuracy than the conventional microarray classification models such as support vector machine, artificial neural network, decision trees, k nearest neighbors, and diagonal linear discriminant analysis
Mass spectrometry based proteomics technologies have allowed for a great progress in identifying disease biomarkers for clinical diagnosis and prognosis. However, they face acute challenges from a data reproducibility standpoint, in that no two independent studies have been found to produce the same proteomic patterns. Such reproducibility issues cause the identified biomarker patterns to lose repeatability and prevent real clinical usage. In this work, we propose a profile biomarker approach to overcome this problem from a machine-learning viewpoint by developing a novel derivative component analysis (DCA)
In this paper, a random forest classifier (RFC) approach is proposed to diagnose lymph diseases
The algorithm provides excellent discrimination of PD patients from PSP patients at an individual level, thus encouraging the application of computer-based diagnosis in clinical practice.
The objective of this project was the development and validation of a multiparameter machine learning algorithm and system capable of predicting the need for life-saving interventions (LSIs) in trauma patients.

Answer: Machine learning technology is well suited for the induction of diagnostic and prognostic rules and solving of small and specialized diagnostic and prognostic problems. The medical diagnostic knowledge can be automatically derived from the description of cases solved in the past. In several medical domains we actually applied machine learning algorithms. Typically, the automatically generated diagnostic rules achieved the same or slightly better diagnostic accuracy than physicians specialists. There many several  application of machine learning algorithms in medical diagnosis such as Brain glioma progression, Microarray classification, Mass spectral proteomics, Lymph disease classification and Parkinson's disease.
Exact answer: Brain glioma progression, Microarray classification, Mass spectral proteomics, Lymph disease classification, Parkinson's disease
Question: What is the treatment of Riedel disease (thyroiditis)?

Context:
IFT often is associated with a systemic extracervical fibrotic process and tobacco use. Attempted thyroid resection often results in postoperative complications. Long-term follow-up showed no deaths fro
Riedel's invasive fibrous thyroiditis is a rare disorder of unknown origin with progressive extension and invasion of adjacent structures.
Clinically it is impossible to distinguish between Riedel's/thyroiditis and other diseases as undifferentiated carcinoma, Hashimoto's disease etc...
Surgical treatment depends on the stage of the disease, when both lobes are involved generous wedge resection of the isthmus may be the treatment of choice to relieve tracheal compression; in earlier stages radical operation are considered. Corticosteroid treatment in Riedel's thyroiditis, as multifocal disease has been successfully used. Other drugs with antifibrosing actions have also utilised in small groups of patients with encouraging results.

Answer: Riedel thyroiditis is a rare disorder related to a systemic extracervical fibrotic process of unknown origin. The tratment of choice is the surgical treatment: Corticosteroids may be also useful
Question: How does hyperprolactinaemia related to prolactinoma increase the risk of osteoporosis?

Context:
Hyperprolactinaemia related to prolactinoma significantly (more than functional hyperprolactiaemia) increases the risk of osteopenia, osteoporosis and bone fractures.", "INTRODUCTION Osteopenia and osteoporosis because of hyperprolactinaemia caused by prolactinoma may be followed by an increased risk of fracture.", "In conclusion, men with prolactinoma have high prevalence of osteopenia and osteoporosis.", "Humans with prolactinoma are at risk for osteoporosis.", "Osteopenia and osteoporosis because of hyperprolactinaemia caused by prolactinoma may be followed by an increased risk of fracture.", "The relative risk for developing osteoporosis in women with prolactinoma was found to be 4.5, indicating that hyperprolactinemia in women is a major risk factor for osteoporosis..", "In the premenopausal women, patients with prolactinoma or craniopharyngioma are often accompanied with osteopenia or osteoporosis, and disease duration and hypogonadism are the risk factors of bone loss in prolactinoma."]

Answer: Hyperprolactinaemia related to prolactinoma significantly increases the risk of osteopenia, osteoporosis, and bone fractures. Men with prolactinoma have a high prevalence of osteopenia and osteoporosis. Humans with prolactinoma are at risk for osteoporosis. The relative risk for developing osteoporosis in women with prolactinoma was found to be 4.5, indicating that hyperprolactinemia in women is a major risk factor for osteoporosis. In premenopausal women, patients with prolactinoma or craniopharyngioma are often accompanied by osteopenia or osteoporosis, with disease duration and hypogonadism being risk factors for bone loss in prolactinoma.
Question: What is ectopia lentis?

Context:
bilateral lens dislocation
Clinical manifestations include mental retardation, dislocation of the optic lens (ectopia lentis)
Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. 

Answer: Ectopia Lentis is dislocation of the optic lens in the eye.
Question: Which is the most common cause of sudden cardiac death in young athletes?

Context:
The most common cause of death was hypertrophic cardiomyopathy (30 %), followed by coronary artery anomalies (9 %), and myocarditis (9 %). 
The most common cause of this, hypertrophic cardiomyopathy (HCM), is a genetic disorder responsible for more than a third of cases and is manageable.
HCM is the most common cause of sudden death in young competitive athletes and preparticipation screening programs have to be implemented to avoid these tragic fatalities. 
Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in young people, including trained athletes.
Hypertrophic cardiomyopathy (HCM) is regarded as the most common cause of sudden cardiac death in young people (including trained athletes). 
Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death in young people, including trained athletes. 
Hypertrophic cardiomyopathy is regarded as the most common cause of sudden cardiac death in young people (including trained athletes).
The most common cause of sudden cardiac death in athletes is hypertrophic cardiomyopathy. 
Hypertrophic cardiomyopathy (HCM) is one of the most common inherited primary cardiac disorders and the most common cause of sudden cardiac death in young athletes.
The most common cause of sudden cardiac death in individuals aged less than 35 years, including competitive athletes, is the inherited disorder hypertrophic cardiomyopathy (HCM). 
udden death in young competitive athletes is due to a variety of cardiovascular diseases (CVDs) and, most commonly, HCM. 
Hypertrophic cardiomyopathy (HCM) is the most common cause of death in the young, particularly in young competitive athletes.
Hypertrophic cardiomyopathy (HC) is probably the most common cause of sudden cardiac death in youthful athletes, and this diagnosis has represented a contraindication to continued participation in competitive sports. 

Answer: the most common cause of sudden cardiac death in young athletes is hypertrophic cardiomyopathy
Exact answer: hypertrophic cardiomyopathy
Question: Hy's law measures failure for what organ?

Context:
 Hy's Law of drug-induced hepatocellular jaundice causing a case-fatality rate or need for transplant of 10% or higher has been validated in several large national registries, including the ongoing, prospective U.S. Drug-Induced Liver Injury Network. 
Enzyme elevations alone may not be harmful, but if caused by a drug and followed by jaundice (called 'Hy's law') there is a high possibility of serious DILI.
No additional alleles outside those associated with liver injury patterns were found to affect potential severity as measured by Hy's Law criteria.
We compared its performance with that of Hy's Law, which predicts severity of DILI based on levels of alanine aminotransferase or aspartate aminotransferase and total bilirubin, and validated the model in a separate sample.We conducted a retrospective cohort study of 15,353 Kaiser Permanente Northern California members diagnosed with DILI from 2004 through 2010, liver aminotransferase levels above the upper limit of normal, and no pre-existing liver disease.
Risk of Acute Liver Failure in Patients With Drug-Induced Liver Injury: Evaluation of Hy's Law and a New Prognostic Model.
Hy's Law, which states that hepatocellular drug-induced liver injury (DILI) with jaundice indicates a serious reaction, is used widely to determine risk for acute liver failure (ALF).
Hy's law is a method used to identify drug-induced liver injury (DILI)
Potential severe liver injury is identified in clinical trials by ALT>3 × upper limits of normal (ULN) and total bilirubin>2 × ULN, and termed 'Hy's Law' by the US FDA.
Severe liver injury is identified by the liver chemistry threshold of alanine aminotransferase (ALT)>3× upper limit of normal (ULN) and bilirubin>2× ULN, termed Hy's law by the Food and Drug Administration. 

Answer: Hy's law correlates enzyme elevations with liver injury ad subsequent failure.
Exact answer: liver
Question: Which kinase is regulating stress granule biogenesis?

Context:
5'-AMP-activated protein kinase alpha regulates stress granule biogenesis
Multiple lines of evidence link AMPK activity to SG biogenesis. First, pharmacological kinase inhibition interfered with SG formation. Second, AMPK-α knockdown combined with in-depth quantitative SG analysis revealed isoform-specific changes of SG characteristics. Third, overexpression of mutant α-subunits further substantiated that AMPK regulates SG parameters. Finally, we identified the SG-nucleating protein G3BP1 as an AMPK-α2 binding partner. This interaction is stimulated by stress and notably occurs in SGs
our data define the master metabolic regulator AMPK as a novel SG constituent that also controls their biogenesis
5'-AMP-activated protein kinase alpha regulates stress granule biogenesis.
Collectively, our data define the master metabolic regulator AMPK as a novel SG constituent that also controls their biogenesis.
This interaction is stimulated by stress and notably occurs in SGs. Collectively, our data define the master metabolic regulator AMPK as a novel SG constituent that also controls their biogenesis.
5&apos;-AMP-activated protein kinase alpha regulates stress granule biogenesis..

Answer: 5'-AMP-activated protein kinase alpha regulates stress granule biogenesis
Multiple lines of evidence define the master metabolic regulator 5'-AMP-activated protein kinase alpha (AMPK-alpha) as a novel component of stress granules (SGs) that also controls their biogenesis.
Question: Is it feasible to obtain DNA read lengths that exceed 30 Kb?

Context:
Single-molecule, real-time sequencing (SMRT) developed by Pacific BioSciences produces longer reads than secondary generation sequencing technologies such as Illumina. The long read length enables PacBio sequencing to close gaps in genome assembly, reveal structural variations, and identify gene isoforms with higher accuracy in transcriptomic sequencing.
 Third-generation sequencing, with read lengths>10 kb, will improve the assembly of complex genomes, but these techniques require high-molecular-weight genomic DNA (gDNA), and gDNA extraction protocols used for obtaining smaller fragments for short-read sequencing are not suitable for this purpose.
The emergence and development of so called third generation sequencing platforms such as PacBio has permitted exceptionally long reads (over 20 kb) to be generated.

Answer: The emergence and development of so called third generation sequencing platforms such as PacBio has permitted exceptionally long reads (over 20 kb) to be generated but not yet read length >30 Kb.
Exact answer: no
Question: Why is lock mass used in Orbitrap measurements?

Context:
Benzyldimethylphenylammonium was used as an internal lock mass.
To compensate for drifts in instrument calibration, a compound of known mass is often employed. This 'lock mass' provides an internal mass standard in every spectrum.
The use of mass calibrants (lock masses) to reduce the systematic error of mass-to-charge measurements has also been reported and, in some cases, incorporated in the instrument control software by the instrument manufacturers.
We achieved absolute mass accuracies for intact proteins between 0.92 and 2.8 ppm using the "lock mass" mode of operation.
Real time recalibration on the "lock mass" by corrections of mass shift removes mass error associated with calibration of the mass scale.

Answer: The lock mass is a compound of known mass and is used to compensate for drifts in instrument calibration.
Question: From which sequence does the Alu repeat originate from?

Context:
The origin of Alu-derived minisatellites appears to have been mediated by short flanking repeats, as first proposed by Haber and Louis
Finally, we propose that the origin of Alu subfamilies in human populations may be related to evolution of chromosome Y.
Our analysis indicates that about 60 Myr ago, before the prosimian divergence, free left and right monomers formed an Alu heterodimer connected by a 19-nucleotide-long A-rich linker.
the presence of Alu-like structural motifs supports the hypothesis of the monophyletic origin of Alu and B1 repeats, i.e., from a common 7SL RNA-derived retroposing monomeric element
Alu elements are each a dimer of similar, but not identical, fragments of total size about 300 bp, and originate from the 7SL RNA gene.

Answer: The presence of Alu-like structural motifs supports the hypothesis of the monophyletic origin of Alu and B1 repeats, i.e., from a common 7SL RNA-derived retroposing monomeric element, The origin of Alu subfamilies in human populations may be related to evolution of chromosome Y.
Exact answer: 7SL RNA
Question: What is the mode of inheritance of Acromicric dysplasia?

Context:
AD has an autosomal dominant mode of inheritance, distinct facial and skeleton features (a hoarse voice and internal notch of the femoral head).
Finally, WMS is transmitted either by an autosomal dominant or an autosomal recessive (AR) mode of inheritance, GD by an autosomal recessive mode of inheritance and AD by an autosomal dominant mode of inheritance. 
The condition appeared to be sporadic in 16 cases but the observation of vertical transmission in three families was consistent with an autosomal dominant mode of inheritance.

Answer: Acromicric dysplasia has an autosomal dominant mode of inheritance
Exact answer: autosomal dominant
Question: Which proteins remove H2A.Z in the yeast Saccharomyces cerevisiae?

Context:
Removal of H2A.Z by INO80 promotes homologous recombination
Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers.
Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80.
We also report that the histone chaperone ANP32E, which is implicated in removing H2AZ from chromatin, similarly promotes HR and appears to work on the same pathway as INO80 in these assays.
H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.
Instead, the INO80 complex, which removes H2A.Z(Htz1) from nucleosomes, promotes the ectopic deposition of CENP-A(Cse4).

Answer: Removal of H2A.Z by INO80 promotes homologous recombination Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80.
Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80. We also report that the histone chaperone ANP32E, which is implicated in removing H2AZ from chromatin, similarly promotes HR and appears to work on the same pathway as INO80 in these assays. Importantly, we demonstrate that the HR defect in cells depleted of INO80 or ANP32E can be rescued by H2A.Z co-depletion, suggesting that H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.
Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80. We also report that the histone chaperone ANP32E, which is implicated in removing H2AZ from chromatin, similarly promotes HR and appears to work on the same pathway as INO80 in these assays.
we also report that the histone chaperone anp32e, which is implicated in removing h2az from chromatin, similarly promotes hr and appears to work on the same pathway as ino80 in these assays.
Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Removal of H2A.Z by INO80 promotes homologous recombination H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.
Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Removal of H2A.Z by INO80 promotes homologous recombination
Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.
Exact answer: INO80, ANP32E
Question: What is the Glasgow Coma score?

Context:
 Injury severity was determined by the Glasgow Coma Scale (GCS) score on admission or by the duration of unconsciousness
Severity analysis was based on the Glasgow Coma Scale and Injury Severity Scor
The strongest correlations were found between the Glasgow coma score and quality of life (r = 0.236, P = 0.0001)
By accepting the Glasgow Coma Scale as a gold standard for classification of the level of coma, we can confirm satisfactory measuring qualities for the Vienna Vigilance Score.
Our aim in this study was to assess whether the new Glasgow Coma Scale, Age, and Systolic Blood Pressure (GAP) scoring system, which is a modification of the Mechanism, Glasgow Coma Scale, Age, and Arterial Pressure (MGAP) scoring system, better predicts in-hospital mortality and can be applied more easily than previous trauma scores among trauma patients in the emergency department

Answer: Glasgow coma sore is used to determine injury severity on admission to a hospital emergency department or by the duration of unconsciousness.