anand-s/m_qalm huggingface dataset:
Question: How many families did the 100,000 Genomes Pilot enrol?
Answer: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. A pilot study was conducted involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present.
The 100,000 Genomes Project is a pilot study involving 4660 participants from 2183 families, among whom 161 disorders covering a broad spectrum of rare diseases were present.
Question: What methodology does the Oncomine Dx target test use?
Answer: The Oncomine Dx target test uses the next generation sequencing methodology.
Question: What is caused by gain-of-function variants in SYK?
Answer: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
SYK gain-of-function variants cause immune dysregulation and systemic inflammation in humans and mice.
Question: Summarize the cause of autosomal dominant Spinocerebellar Ataxia type 3.
Answer: Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a progressive autosomal dominant neurodegenerative disease caused by abnormal CAG repeats in the exon 10 of ATXN3.
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is a dominant neurodegenerative disease caused by the expansion of a CAG repeat tract in ATXN3.
Question: Describe GREEKC
Answer: As computational modeling becomes more essential to analyze and understand biological regulatory mechanisms, governance of the many databases and knowledge bases that support this domain is crucial to guarantee reliability and interoperability of resources. To address this, the COST Action Gene Regulation Ensemble Effort for the Knowledge Commons (GREEKC, CA15205, www.greekc.org) organized nine workshops in a four-year period, starting September 2016. The workshops brought together a wide range of experts from all over the world working on various steps in the knowledge management process that focuses on understanding gene regulatory mechanisms. The discussions between ontologists, curators, text miners, biologists, bioinformaticians, philosophers and computational scientists spawned a host of activities aimed to standardize and update existing knowledge management workflows and involve end-users in the process of designing the Gene Regulation Knowledge Commons (GRKC).
The COST Action Gene Regulation Ensemble Effort for the Knowledge Commons (GREEKC, CA15205, www.greekc.org) organized nine workshops in a four-year period, starting September 2016. The workshops brought together experts from all over the world working on various steps in the knowledge management process that focuses on understanding gene regulatory mechanisms.
Question: What is the function of a chaperonin?
Answer: Molecular chaperones promote the correct folding of proteins in aggregation-prone cellular environments by stabilizing nascent polypeptide chains and providing appropriate folding conditions. They are involved in the development of pathological processes, including--atherosclerosis and coronary heart disease.
Molecular chaperones promote the correct folding of proteins in aggregation-prone cellular environments by stabilizing nascent polypeptide chains and providing appropriate folding conditions.
Chaperonins assist in the acquisition of native protein structure in the cell by providing a shielded environment for a folding polypeptide chain, generated by the interior surface of their cylindrical structure.
Question: What is Neuromedin U (NmU)
Answer: Neuromedin U (NmU) is a highly conserved neuropeptide and has multiple physiological and pathophysiological roles detected, ranging from smooth muscle contraction, feeding, energy balance to tumorigenesis, stress responses,  and inflammation.
Neuromedin U (NmU) is a bioactive neuropeptide that is highly distributed in the central nervous system and the gastrointestinal tract. It has a number of physiological and pathophysiological roles, ranging from feeding behavior, energy metabolism, stress responses, circadian rhythmicity and inflammation.
Question: Describe SPar-K
Answer: SPar-K (Signal Partitioning with K-means) is a method to search for archetypical chromatin architectures by partitioning a set of genomic regions characterized by chromatin signal profiles around ChIP-seq peaks and other kinds of functional sites. This method efficiently deals with problems of data heterogeneity, limited misalignment of anchor points and unknown orientation of asymmetric patterns.
SPar-K is a method to search for archetypical chromatin architectures by partitioning a set of genomic regions characterized by chromatin signal profiles around ChIP-seq peaks and other kinds of functional sites. This method efficiently deals with problems of data heterogeneity, limited misalignment of anchor points and unknown orientation of asymmetric patterns.
SPar-K (Signal Partitioning with K-means) is a method to search for archetypical chromatin architectures by partitioning a set of genomic regions characterized by chromatin signal profiles around ChIP-seq peaks and other functional sites.
Question: What is the mechanism of action of donanemab?
Answer: Donanemab is a new monoclonal antibody that uniquely targets Aβ(p3-42), a pyroglutamate form of Amyloid-β (Aβ) exclusively found in plaques.
Question: What is the relationship between RUNX1T1 and FTO?
Answer: FTO controls exonic splicing of adipogenic regulatory factor RUNX1T1 by regulating m6A levels around splice sites and thereby modulates differentiation. The effect of FTO on adipogenesis appears to be mediated via enhanced expression of the pro-adipogenic short isoform of RUNX1T1.
Question: What is the mechanism of action of Etesevimab?
Answer: Etesevimab is a neutralizing antibody indicated for treatment of coronavirus disease 2019 (COVID-19) in patients with early mild or moderate disease.
Question: Describe the GenomeAsia 100K Project
Answer: The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world's population. Population-specific reference genome datasets as well as genome-wide association studies in diverse populations are needed to address this issue. The pilot phase of the GenomeAsia 100K Project includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia.
The GenomeAsia 100K Project (GenomeAsia100K Project) aims to identify and catalogue genetic variation, population structure, disease associations and founder effects in populations across Asia and worldwide. It includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia, as well as a population-wide association dataset.
Question: What is protein palmitoylation?
Answer: Protein S-palmitoylation, the covalent lipid modification of the side chain of Cys residues with the 16‑carbon fatty acid palmitate, is the most common acylation, and it enhances the membrane stability of ion channels. This post-translational modification (PTM) determines a functional mechanism of ion channel life cycle from maturation and membrane trafficking to localization.
Question: What is Etizolam?
Answer: Etizolam is a benzodiazepine analogue that is approved for use in Japan, Italy and India as an anxiolytic drug with a pharmacologic profile similar to that of the classic benzodiazepines. Neurochemical research suggests that etizolam may have selectivity for the subpopulation of Y-aminobutyric acid type A receptors associated with anxiety (ie, alpha1, beta2, gamma2).
Etizolam is a thienodiazepine derivative, with high affinity for the benzodiazepine site of GABAA receptors.
Question: What is caused by de novo VPS4A mutations?
Answer: De novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment. VPS4A normal function is required for multiple human developmental and cellular processes.
De-novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment, including dyskinesias, dyslipidemia, and dysplastic skin and cartilaginous neoplasia, as well as an inability to control intracranial temperature.
Question: Which maternal CYP2D6 related phenotype may expose their infants to risk of adverse events when taking codeine while breastfeeding?
Answer: Mothers with a CYP2D6 ultrarapid metabolizer phenotype may expose their infants to risk of adverse events when taking codeine while breastfeeding, by producing more of the active metabolite, morphine.
Question: Describe the web application VICTOR
Answer: VICTOR is the first fully interactive and dependency-free visual analytics web application which allows the visual comparison of the results of various clustering algorithms. VICTOR can handle multiple cluster set results simultaneously and compare them using ten different metrics. Clustering results can be filtered and compared to each other with the use of data tables or interactive heatmaps, bar plots, correlation networks, sankey and circos plots.
VICTOR is a visual analytics web application which allows the visual comparison of the results of various clustering algorithms.
VICTOR is a free, dependency-free visual analytics web application that allows the visual comparison of the results of various clustering algorithms. It can handle multiple cluster set results simultaneously and compare them using ten different metrics. Clustering results can be filtered and compared with the use of data tables or interactive heatmaps, bar plots, correlation networks, sankey and circos plots.
Question: What is GLS-5700?
Answer: GLS-5700 is a synthetic, consensus DNA vaccine encoding the ZIKV premembrane and envelope proteins that was tested for Zika virus disease.
Question: What is caused by SCUBE3 loss of function?
Answer: SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
SCUBE3 is a BMP2/BMP4 co-receptor. It is responsible for the development of bone and teeth. When it is not functioning properly, it inhibits the growth and development of these tissues.
SCUBE3 loss-of-function results in a human disease caused by defective function of a member of the SCUBE family that is associated with a previously unrecognized syndromic disorder. The disorder is characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. It is also associated with dysregulating bone morphogenetic protein signaling.
Question: What is the human proteoform project?
Answer: Top-down proteomics is emerging as a preferred approach to investigate biological systems, with objectives ranging from the detailed assessment of a single protein therapeutic, to the complete characterization of every possible protein including their modifications, which define the human proteoform.
Question: Describe ANTISOMA
Answer: ANTISOMA is a pipeline for the reduction of the aggregation tendency of mAbs through the decrease in their intrinsic aggregation propensity, based on an automated amino acid substitution approach. The method takes into consideration the special features of mAbs and aims at proposing specific point mutations that could lead to the redesign of those promising therapeutics, without affecting their epitope-binding ability. The method is available online at http://bioinformatics.biol.uoa.gr/ANTISOMA .
ANTISOMA is a pipeline for the reduction of the aggregation tendency of mAbs through the decrease in their intrinsic aggregation propensity, based on an automated amino acid substitution approach. The method takes into consideration the special features of mAbs and aims at proposing specific point mutations that could lead to the redesign of those promising therapeutics, without affecting their epitope-binding ability.
The ANTISOMA method is a computerized pipeline for the reduction of the aggregation tendency of monoclonal antibodies (mAbs) based on an automated amino acid substitution approach. The method is available online at http://bioinformatics.biol.uoa.gr/antisoma.
ANTISOMA is a pipeline for the reduction of the aggregation tendency of mAbs through the decrease in their intrinsic aggregation propensity, based on an automated amino acid substitution approach.
Question: What is the mechanism of action of Vericiguat?
Answer: Vericiguat is a stimulator of soluble guanylate cyclase. It was developed for treatment of chronic heart failure with reduced ejection fraction.
Question: What is STATegra?
Answer: STATegra is a comprehensive multi-omics dataset of B-cell differentiation in mouse. It combines measurements from up to 10 different omics technologies applied to the same biological system, namely the well-studied mouse pre-B-cell differentiation. STATegra includes high-throughput measurements of chromatin structure, gene expression, proteomics and metabolomics, and it is complemented with single-cell data.
STATegra is a comprehensive multi-omics dataset of B-cell differentiation in mouse. It includes measurements from up to 10 different omics technologies applied to the same biological system, namely the well-studied mouse pre-B-cell differentiation.
It's a multi-omics dataset that combines measurements from up to 10 different omics technologies, namely pre-B-cell differentiation.
Stategra is a multi-omics dataset that includes measurements from up to 10 different omics technologies applied to the same biological system, namely the well-studied mouse pre-B-cell differentiation. It includes high-throughput measurements of chromatin structure, gene expression, proteomics and metabolomics, and is complemented with single-cell data.
Question: What is CIS43LS?
Answer: CIS43LS is an antimalarial monoclonal antibody with an extended half-life against infection with Plasmodium falciparum.
Question: List clinical phenotypes and molecular genetic features of patients with KMT2B-related disorders
Answer: Atypical patterns of dystonia evolution and a subgroup of patients presents with a non-dystonic neurodevelopmental phenotype. In addition to the previously reported systemic features there seem to be co-morbidities, including the risk of status dystonicus, intrauterine growth retardation, and endocrinopathies.
KMT2B-related disorders result in significant improvement in motor function and disability at 6 months, 1 year, and again at 1 year after stimulation. The greatest improvements are seen for trunk and cervical dystonia, with less clinical impact on laryngeal or transternal dystonias. Patients with chromosomal deletions and protein truncating variants have a higher burden of systemic disease than those with missense variants.
Question: What is a potential alternate uses(repositioning) for Primaquine
Answer: Primaquine could be used as a novel drug for vascular leakage by maintaining endothelial integrity and for
Primaquine Diphosphate, a Known Antimalarial Drug, Blocks Vascular Leakage Acting Through Junction Stabilization.  PD could be used as a novel drug for vascular leakage by maintaining endothelial integrity
Primaquine Diphosphate, a known Antimalarial Drug, blocks Vascular Leakage through Junction Stabilization. This is a potential alternate uses.
Question: What are the key characteristics of the syndrome caused by ANKRD17 loss-of-function variants?
Answer: Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphia.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism, as well as growth failure, feeding difficulties, non-specific MRI abnormalities, epilepsy, and/or abnormal EEG, and predisposition to recurrent infections.
Question: Please list 3 biologic(monoclonal antibody) drugs used to treat migraine headaches.
Answer: Large molecule biologic antibody (mAb) approaches that are given subcutaneously to neutralize circulating CGRP peptide (fremanezumab, galcanezumab) or block CGRP receptors (erenumab) have shown consistent efficacy and tolerability in multicenter migraine prevention trials and are now approved for clinical use.
 Large molecule biologic antibody (mAb) approaches that are given subcutaneously to neutralize circulating CGRP peptide (fremanezumab, galcanezumab) or block CGRP receptors (erenumab) have shown consistent efficacy and tolerability in multicenter migraine prevention trials and are now approved for clinical use.
Question: Which receptors are targeted by Tirzepatide?
Answer: Tirzepatide is dual glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) receptor agonist that demonstrated substantially greater glucose control and weight loss (WL) compared with selective GLP-1RA dulaglutide.
Question: List known pseudokinases.
Answer: TRIB1
TRIB2
TRIB3
MLKL
ULK4
HER3
CASK
Question: What is the use of pegcetacoplan?
Answer: Pegcetacoplan is promising for paroxysmal nocturnal haemoglobinuria and Geographic Atrophy.
Question: Which drugs are included in the CAPOX chemotherapy regimen for colorectal cancer?
Answer: CAPOX chemotherapy regimen for colorectal cancer includes capecitabine plus oxaliplatin.
Question: Which factors are inhibited by Abelacimab?
Answer: Abelacimab is a novel dual inhibitor of Factor XI and Factor XIa.
Question: What kind of approaches you need to combine in order to manage Familial spontaneous pneumothorax?
Answer: Clinical, radiological and genetic approaches
Combining clinical, radiological and genetic approaches to pneumothorax management is a critical step in managing family history and family history-based causes of spontaneous pneumothorsic disease (FPSD) in children and adults who have a family history of FPSD and are at high risk for the disease because of family history.
Question: List the main salt-inducible kinases.
Answer: SIK1
SIK2
SIK3
HDAC4
HDAC5
Question: Which is the protein-membrane interface of the Cholesterol-regulated Start protein 4 protein (STARD4)?
Answer: L124 is the protein-membrane interface of the Cholesterol-regulated Start protein 4 protein (STARD4).
Our results show that STARD4 interacts with anionic membranes through a surface-exposed basic patch and that introducing a mutation (L124D) into the Omega-1 (Ω1) loop, which covers the sterol binding pocket, attenuates sterol transfer activity.
Question: What causes the "worst headache" of a patient's life?
Answer: This is a classic description of a subarachnoid hemorrhage (SAH). The gold standard for the diagnostic evaluation of a SAH remains non-contrast head computed tomography (CT) followed by lumbar puncture if the CT is negative.
Headache is the most common presenting symptom of subarachnoid hemorrhage (SAH), ranging from mild headache to the "worst headache of my life"
Aneurysmal subarachnoid hemorrhage (SAH) is associated with a mortality of more than 30%. Acute, severe headache, typically described as the worst headache of the patient's life, and meningismus are the characteristic manifestations of SAH.
Question: Which disease phenotype has the worst prognosis in Duchenne Muscular Dystrophy?
Answer: Dp140 isoform is related to increased risk of cognitive impairment and thus worse prognosis.
A strong association between the risk of cognitive disability and the involvement of groups of DMD isoforms was found.
 A strong association between the risk of cognitive disability and the involvement of groups of DMD isoforms was found. In particular, improvements in the correlation of FSIQ with mutation location were identified when a new classification system for mutations affecting the Dp140 isoform was implemented.
A strong association between the risk of cognitive disability and the involvement of groups of DMD isoforms was found. In particular, improvements in the correlation of FSIQ with mutation location were identified when a new classification system for mutations affecting the Dp140 isoform was implemented.
Question: What is the most sensitive test for the diagnosis of multiple sclerosis?
Answer: MRI is the most sensitive tool for the diagnosis of multiple sclerosis (MS). It can detect asymptomatic lesions in the white matter and is the most predictive test for diagnosing clinically definite multiple sclerosis (CDMS). It is also a reliable measure of the current disease activity. The presence of oligoclonal bands in the cerebrospinal fluid (CSF) provides supportive evidence for the diagnosis of MS.
These results support previous conclusions that MRI is the most sensitive test for detecting white matter asymptomatic lesions, and the most predictive for the diagnosis of CDMS.
MRI is the most sensitive test for detecting white matter asymptomatic lesions, and the most predictive for the diagnosis of CDMS. MRI also is a reliable measure of the extent of the MS process, serial MRI scans detect evidence of disease activity in MS not always disclosed by clinical evaluation. Results indicate that the presence of oligoclonal bands provides sensitive supporting evidence
Question: Should acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs) be used when providing supportive care for COVID-19?
Answer: Nonsteroidal anti-inflammatory drugs (NSAIDs) have been theorized to cause harm in patients with COVID-19, but clinical data are limited. Given the uncertainty, acetaminophen is the preferred antipyretic agent for most patients rather than NSAIDs. If NSAIDs are needed, the lowest effective dose is recommended.
Although based on existing evidence, NSAIDs have been effective in treating respiratory infections caused by influenza and rhinovirus, since there is no clinical trial on COVID-19 and case-reports and clinical experiences are indicative of elongation of treatment duration and exacerbation of the clinical course of patients with COVID-19, it is recommended to use substitutes such as acetaminophen for controlling fever and inflammation and be cautious about using NSAIDs in management of COVID-19 patients until there are enough evidence.
Question: What is the incubation period for COVID-19?
Answer: The incubation period for COVID-19 is thought to be within 14 days following exposure, with most cases occurring approximately five to seven days after exposure. The incubation period also varies by viral variant. For example, the incubation period for the Delta variant (B.1.617.2) appears to be slightly shorter, with symptoms first appearing around four days after exposure.
For COVID-19, the mean incubation period was 6.0 days globally but near 7.0 days in the mainland of China, which will help identify the time of infection and make disease control decisions. The Delta VOC yielded a significantly shorter incubation period (4.0 vs. 6.0 days), higher viral load (20.6 vs. 34.0, cycle threshold of the ORF1a/b gene), and a longer duration of viral shedding in pharyngeal swab samples (14.0 vs. 8.0 days) compared with the wild-type strain.
Question: What links developmental pathways to ALS?
Answer: A direct link between developmental pathways and ALS is not described. However, cytoskeletal proteins such as KIF5A are implicated in ALS, and the cytoskeletal protein N-cadherin is involved in plasticity of the cerebral cortex. Development depends on connections of the sympathetic nervous system, involving mechanisms such as axon growth, neuron survival, and dendrite growth. BACE1, which is involved in Alzheimer's disease, is also implicated in axonal regeneration.