anand-s/m_qalm huggingface dataset:
Question: Which syndrome is associated with OATP1B1 and OATP1B3 deficiency?
Answer: Complete and simultaneous deficiency of the organic anion transporting polypeptides OATP1B1 and OATP1B3 due to mutations in their corresponding genes, has been linked to Rotor syndrome.
Question: What is the drug target(s) for Belsomra?
Answer: Belsomra is a dual orexin receptor antagonist for both the Ox1 and Ox2 receptors
Question: Which is the prognostic meaning of delayed enhancement documented in patients hypertrophic cardiomyopathy?
Answer: Delayed enhancement by CMR has prognostic value in predicting adverse cardiovascular events among HCM patients, and is associated with cardiovascular mortality, heart failure death, and all-cause mortality in HCM.
Question: Which biological process takes place in nuclear speckles?
Answer: Speckles are subnuclear structures that are enriched in pre-messenger RNA splicing factors and are located in the interchromatin regions of the nucleoplasm of mammalian cells. They serve as splicing factor storage sites and play important roles in regulation of pre-mRNA splicing.
Question: What is the proportion of non canonical splice sites in the human genome?
Answer: Between 1% and 2% of human splice sites do not contain the canonical GT-AG dinucleotides
Question: Which R/bioconductor package is used for integrative genomics visualizations?
Answer: Sushi.R is a flexible, quantitative and integrative genomic visualizations for publication-quality multi-panel figures using common genomic data formats including Browser Extensible Data (BED), bedGraph and Browser Extensible Data Paired-End (BEDPE). Sushi.R is open source and made publicly available through GitHub (https://github.com/dphansti/Sushi) and Bioconductor (http://bioconductor.org/packages/release/bioc/html/Sushi.html).
Question: What is the aim of the "Radiogenomics Consortium"?
Answer: A major aim of research in radiogenomics is the development of a predictive instrument to enable identification of people who are at greatest risk for adverse effects resulting from cancer treatment using radiation. An important effort to advance radiobiology in the genomic era was establishment of the Radiogenomics Consortium to enable the creation of the large radiotherapy cohorts required to exploit advances in genomics.
Question: Which residue of alpha-synuclein was found to be phosphorylated in Lewy bodies?
Answer: Alpha-synuclein phosphorylated at serine 129 (S129) is highly elevated in Parkinson's disease patients where it mainly accumulates in the Lewy bodiesApproximately 90% of α-syn deposited in Lewy bodies is phosphorylated at serine 129 (Ser129). In contrast, only 4% or less of total α-syn is phosphorylated at this residue in the normal brain. This suggests that the accumulation of Ser129-phosphorylated α-syn leads to the formation of Lewy bodies and dopaminergic neurodegeneration in Parkinson's disease
Question: Which residue of alpha-synuclein was found to be phosphorylated in Lewy bodies?
Answer: Alpha-synuclein is phosphorylated at serine 129 (Ser129) in intracellular protein aggregates called Lewy bodies, which are characteristic pathologic lesions of Parkinson disease.
Question: Which residue of alpha-synuclein was found to be phosphorylated in Lewy bodies?
Answer: Alpha-synuclein phosphorylated at serine 129 (S129) is highly elevated in Parkinsons disease patients where it mainly accumulates in the Lewy bodies
Question: Which residue of alpha-synuclein was found to be phosphorylated in Lewy bodies?
Answer: Alpha-synuclein phosphorylated at serine 129 (S129) is highly elevated in Parkinson s disease patients where it mainly accumulates in the Lewy bodies
Question: How many disulfide bridges has the protein hepcidin got?
Answer: Hepcidin contains eight cysteine residues that form four disulfide bridges.
Question: Salzburg EEG criteria are used to diagnose which disorder?
Answer: Salzburg EEG criteria are used to diagnose Nonconvulsive Status Epilepticus.
Question: What is the effect of a defective CLN3 gene?
Answer: Mutations in the CLN3 gene, which encodes a lysosomal membrane protein, are responsible for the neurodegenerative disorder juvenile Batten disease.
Question: Which domain of TIA-1 is necessary for stress granule assembly?
Answer: TIA-1 is an RNA binding protein that promotes the assembly of stress granules (SGs), discrete cytoplasmic inclusions into which stalled translation initiation complexes are dynamically recruited in cells subjected to environmental stress. The RNA recognition motifs of TIA-1 are linked to a glutamine-rich prion-related domain (PRD). Truncation mutants lacking the PRD domain do not induce spontaneous SGs and are not recruited to arsenite-induced SGs, whereas the PRD forms aggregates that are recruited to SGs in low-level-expressing cells but prevent SG assembly in high-level-expressing cells.
Question: Burosumab is used for treatment of which disease?
Answer: Burosumab is a fully human IgG1 monoclonal antibody directed at fibroblast growth factor 23 (FGF23), is indicated for the treatment of X-linked hypophosphatemia (XLH), a condition associated with excessive FGF23 production.
Question: What rare disease is associated with a mutation in the GPC6 gene on chromosome 13?
Answer:  The proband had normal molecular analysis of the glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia
Question: What rare disease is associated with a mutation in the GPC6 gene on chromosome 13?
Answer: The proband had normal molecular analysis of the glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia
Question: What rare disease is associated with a mutation in the GPC6 gene on chromosome 13?
Answer: The glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia.
Question: What rare disease is associated with a mutation in the GPC6 gene on chromosome 13?
Answer: Omodysplasia is a rare autosomal recessive disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in the GPC6 gene on chromosome 13.
Question: What is an acceptable sequence coverage(depth) required for human whole-exome sequencing?
Answer: A medium depth may be considered as 8x while the most common values vary between 30x and 60x. Values more than 75x or even up to 125x may be considered for the investigation of rare disease variants.
Question: Which receptor is modulated with Siponimod?
Answer: Siponimod is a functional sphingosine-1-phosphate (S1P) antagonist.
Question: Cerliponase alfa is apprived for treatment of which disease?
Answer: Cerliponase alfa is a recombinant human tripeptidyl peptidase-1 (TPP1) approved for use in patients with neuronal ceroid lipofuscinosis type 2 (CLN2), a paediatric neurodegenerative disease caused by a deficiency in TPP1.
Question: Which is the gene mutated in type 1 neurofibromatosis?
Answer: NF1 gene, encoding neurofibromin 1
Question: What is a HapMap
Answer: HapMap is a international effort for creating an annotated haplotype map of the world’s most commonhaplotype sequences.
Question: What is a HapMap
Answer: HapMap provides linkage disequilibrium information on a sample of 3.7 million SNPs that can be used for tag SNP selection in whole-genome association studies.
Question: What is a HapMap
Answer: A haplotype map (HapMap)is aimed at describing these variation patterns across the entire genome and has been recently developed by the International HapMap Consortium. HapMap characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and includes 25-35% of common SNP variation in the populations surveyed.
Question: What is a HapMap
Answer: The "HapMap" project is now underway to characterize patterns of LD in the human genome.
Question: What is a HapMap
Answer: The HapMap haplotype map project aims to systematically map all human haplotypes, chromosome by chromosome, in a gene-dependent manner through dedicated efforts from national and international teams.
Question: What is a HapMap
Answer: The HapMap haplotype map project aims to systematically map all human haplotypes, chromosome by chromosome, in a gene-rich manner through dedicated efforts from national and international teams.
Question: What is a HapMap
Answer: The International Haplotype Map Project (HapMap) is an international effort for creating an annotated haplotype map of the human genome using protein sequences and other genomic data.
Question: What is a HapMap
Answer: A HapMap is a map of the human genome. It's a 3.1 million human single nucleotide polymorphisms (SNPs) that can be genotyped and mapped.
Question: Mutations in which gene determine response to both erlotinib and gefitinib?
Answer: Patients who carry somatic activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene, respond well to erlotinib and gefitinib.
Question: Which antibody is implicated in the Bickerstaff's brainstem encephalitis?
Answer: The syndrome defined by Bickerstaff of progressive, external ophthalmoplegia and ataxia, with disturbance of consciousness or hyperreflexia, has subsequently been associated with antiganglioside antibody, anti-GQ1b
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally . It is caused by cytogenetic deletions or mutations of the TWIST1 gene . Of the 37 patients with classic features of the syndrome, the overall detection rate for TWIST mutations was 68% . Increased risk for developmental delay is associated with TWIST deletions .
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Saethre-Chotzen syndrome is an autosomalomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1 . The majority of patients have mutations in TWIST gene, which codes for a basic helx-loix-loge transcription factor .
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Saethre-Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss-of-function variants within the coding region.
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype. Mutations of the TWIST gene in the Saethre-Chotzen syndrome.
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype.
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Autosomal dominant mutations in the gene encoding the basic helix-loop-helix transcription factor Twist1 are associated with limb and craniofacial defects in humans with Saethre-Chotzen syndrome.
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype.
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: It is caused by cytogenetic deletions or mutations of the TWIST1 gene.
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Saethre-Chotzen syndrome is a craniosynostosis syndrome that is rarely diagnosed prenatally. It is caused by cytogenetic deletions or mutations of the TWIST1 gene. We have evaluated TWIST, a basic helix-loop-helix transcription factor, as a candidate gene for this condition because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the Saethre-Chotzen phenotype.
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Saethre-Chotzen syndrome is an autosomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1 . The majority of patients have mutations in TWIST gene on chromosome 7p21 . The most common cause of the syndrome is loss-of-function mutations in a genetic mutation in the TWIST 1 gene . The patient is a heterozygous carrier of the pathogenic variant c.415C>A .
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Saethre-Chotzen syndrome (SCS) is a multiple congenital anomaly-mental retardation complex caused by mutations in the TWIST1 gene (transcription factor Xa, also known as T-box-binding protein 1).
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: The Saethre-Chotzen syndrome is an autosomal, dominantly inherited craniosynostosis caused by mutations in the basic helix-loop-helix transcription factor gene TWIST1 . The majority of patients with the syndrome have mutations in TWIST gene . In 55 patients with features of the syndrome, 11% detected to have deletions by real-time gene dosage analysis .
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Mutations in the TWIST1 gene, encoding the syntaxin binding protein 1, have been described as the cause of the Saethre-Chotzen syndrome.
Question: Which gene is primarily associated with the Saethre-Chotzen syndrome?
Answer: Saethre-Chotzen syndrome (SCS) is a multiple congenital anomaly-mental retardation complex caused by mutations in the TWIST1 gene.
Question: Which was the first cholera vaccine approved in the US?
Answer: Vaxchora is the first vaccine approved by the Food and Drug Administration for the prophylaxis of cholera infection.
Question: What part of the body is affected by mesotheliomia?
Answer: Mesothelioma is a type of cancer that develops from the thin layer of tissue that covers many of the internal organs (known as the mesothelium). The most common area affected is the lining of the lungs and chest wall.
Question: What part of the body is affected by mesotheliomia?
Answer: Malignant pleural mesothelioma (MPM) is a hard to treat malignancy arising from the mesothelial surface of the pleura.
Question: Which method for subsampling of NGS reads requires only gene counts?
Answer: SamExploreR : exploring reproducibility and robustness of RNA-seq results based on SAM files.We introduce the subseq r package, which uses a novel efficient approach to perform this subsampling and to calculate informative metrics at each depth required to inform a broad range of functional and evolutionary studies.Our methods are broadly applicable for polymorphism discovery in moderate to large genomes even at highly diverged loci, and we established by subsampling the illumina sbs coverage depth related questions for the experimental design.SubSeq : determining appropriate sequencing depth through efficient read subsampling.
Question: Which method for subsampling of NGS reads requires only gene counts?
Answer: Our methods are broadly applicable for polymorphism discovery in moderate to large genomes even at highly diverged loci, and we established by subsampling the Illumina SBS coverage depth required to inform a broad range of functional and evolutionary studies. We introduce the subSeq R package, which uses a novel efficient approach to perform this subsampling and to calculate informative metrics at each depth
Question: Which method for subsampling of NGS reads requires only gene counts?
Answer: The subSeq R package, which uses a novel efficient approach to perform this subsampling and to calculate informative metrics at each depth
Question: Which method for subsampling of NGS reads requires only gene counts?
Answer: We applied subsampling to ascertain the effect of training sample size and the number of RNA sequencing reads on classification accuracy of molecular subtype and routine biomarker prediction models . We introduce the subSeq R package, which uses a novel efficient approach to perform this subsampling and to calculate informative metrics at each depth. Interestingly, after subsampling to the same coverage for GSNAP and TopHat, we find that both mappers have similar performance, implying that the advantage of TopHat is mainly an artifact of the lower coverage.
Question: What is the most common histological diagnosis of "butterfly glioma"?
Answer: Butterfly glioma is glioblastoma multiforme invading corpus callosum .
Question: What is the main symptom of Marfan syndrome patients?
Answer: The diagnosis and surgical treatment of patients with Marfan syndrome remain controversial. Pathohistological alterations of the aorta in patients with Marfan syndrome consisted in pronounced restructuring of the wall with deep irreversible alternative changes. The risk of aortic dissection, which is the most serious manifestation of the Marfan syndrome, increases as the aorta enlarges. Surgical replacement of the aortic root with a composite graft does not end the disease process.
Question: What is the main symptom of Marfan syndrome patients?
Answer: Marfan syndrome is a multisystemic connective tissue disorder caused mainly by mutations in the fibrillin-1 gene. The entire cardiovascular system is affected in patients with Marfan syndrome. Aortic root dilatation, which may involve the proximal and distal aorta,  mitral valve prolapse, and mitral regurgitation, aortic valve regurgitation or - the most feared and life-threatening symptom - aortic root dissection are the most common manifestations.
Question: What is the main symptom of Marfan syndrome patients?
Answer: The diagnosis and surgical treatment of patients with Marfan syndrome remain controversial. It is of utmost importance to identify patients at risk for acute aortic events to establish the correct surgical timing and the appropriate surgical treatment
Question: Which disease is diagnosed using the Finkelstein's test?
Answer: Finkelstein's test is the classic diagnostic test for de Quervain's disease.
Question: Human dihydroorotate dehydrogenase is a drug target and is involved in what biosynthetic pathway
Answer: Dihydroorotate dehydrogenase (DHODH) mediates the fourth step of de novo pyrimidine biosynthesis
Question: Human dihydroorotate dehydrogenase is a drug target and is involved in what biosynthetic pathway
Answer: The flavoenzyme dihydroorotate dehydrogenase (DHODH) catalyzes the fourth reaction of the de novo pyrimidine biosynthetic pathway, which exerts vital functions in the cells, especially within DNA and RNA biosynthesis
Question: Human dihydroorotate dehydrogenase is a drug target and is involved in what biosynthetic pathway
Answer: Dihydroorotate dehydrogenase (DHODH) catalyzes the fourth reaction of the de novo pyrimidine biosynthetic pathway, which exerts vital functions in the cells, especially within DNA and RNA biosynthesis.
Question: Which method has been developed for detection of ATAC-seq or ChIP-seq signals with DNA methylation?
Answer: EpiMethylTag is a fast, low- input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.
Question: Which method has been developed for detection of ATAC-seq or ChIP-seq signals with DNA methylation?
Answer: EpiMethyl tag is a method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.
Question: Which method has been developed for detection of ATAC-seq or ChIP-seq signals with DNA methylation?
Answer: Activation of regulatory elements is thought to be inversely correlated with DNA methylation levels. However, it is difficult to determine whether DNA methylation is compatible with chromatin accessibility or transcription factor (TF) binding if assays are performed separately. EpiMethylTag is a fast, low-input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.
Question: Which method has been developed for detection of ATAC-seq or ChIP-seq signals with DNA methylation?
Answer: EpiMethyl tag is a fast, low- input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.
Question: Which method has been developed for detection of ATAC-seq or ChIP-seq signals with DNA methylation?
Answer: EpiMethylTag is a fast, low- input, low sequencing depth method that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion to simultaneously examine accessibility/TF binding and methylation on the same DNA.
Question: Which method has been developed for detection of ATAC-seq or ChIP-seq signals with DNA methylation?
Answer: EpiMethyl tag is a technology that combines ATAC-seq or ChIP-seq (M-ATAC or M-ChIP) with bisulfite conversion, to simultaneously examine accessibility/TF binding and methylation on the same DNA.
Question: What is Contrave prescribed for?
Answer: Contrave(?) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity
Question: What is Contrave prescribed for?
Answer: Contrave(®) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity
Question: What is Contrave prescribed for?
Answer: Contrave(®) is a combination of naltrexone hydrochloride extended release and bupropion hydrochloride extended release for the treatment of obesity.
Question: What is the inheritance pattern of Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) caused by RYR2 mutations?
Answer: Autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT) was mapped to chromosome 1q42-43 with identification of pathogenic mutations in RYR2.
Question: What is the applicability of the No Promoter Left Behind method?
Answer: No Promoter Left Behind (NPLB) is an efficient, organism-independent method for characterizing promoter architectures directly from experimentally identified genome-wide TSSs, without relying on known promoter elements.
Question: What is the applicability of the No Promoter Left Behind method?
Answer: Promoters have diverse regulatory architectures and thus activate genes differently. No Promoter Left Behind (NPLB) is an efficient, organism-independent method for characterizing such diverse architectures directly from experimentally identified genome-wide TSSs, without relying on known promoter elements.
Question: Where is Akkermansia muciniphila found?
Answer: Akkermansia muciniphila is a Gram-negative mucin-degrading bacterium that resides in the gastrointestinal tracts of humans and animals.