Introduction: Body Mass Index is the official name of BMI. It is a measurement technique that divides people into four categories: obese, overweight, normal weight, and underweight. It is the ratio of your weight in kilograms to your square of the height in metres. Step 2 Q1. Answer: Exame sequencing, also known as whole genomic technique for sequencing all of the exame sequencing (WES), it a protein-coding regions of gones in a genome (known as the exome). It consists of two steps: the first Step is to select only. the subset of DNA that encodes proteins. These regions are known about have exony-humans 180,000 eXoN, Constituting genome, or approximately 30 million base pairs. the exonic DNA using any high- thos- cy about 1% of the The second step is to sequence ghput DNA Sequencing technology. human more on Application: Rare variant mapping in complex disorders:- Current association studies have focused on common variation across the genome, as are the easiest to identity with our current assays. However, disease - causing varients of large effect have been found to lie these. with in exond candidate gene studies, and because. found in muth lower allele frequencies current standard genotypeing assays. Whole a potential method to assay variant across the genome. However, in complex disorders (such ass autizm), a large number of genes. are thought associated with disease risk means that very large sample sizes of negative selection, CULC and may remain untyped in genome sequencing noval to be are whole genome sequencing sample size issue is required for gene, oliscovery, and this is not particularly cost-effective. This alleviated by the develoment of novel advanced analytics methot which effectively map. disease genes despite the genetic mutations are rate at variant level. In addition, varients in coding. regions have been much more extensively studied and their functional implications practical applications of varjents region are much easier to derive, making the within the targeted exome immediately accessible.

Human Anatomy & Physiology (11th Edition)
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Chapter1: The Human Body: An Orientation
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**Introduction:**

Body Mass Index is the official name of BMI. It is a measurement technique that divides people into four categories: obese, overweight, normal weight, and underweight. It is the ratio of your weight in kilograms to your square of the height in meters.

**Step 2**

**Q1. Answer:**

Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons. Humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.

**Application:** Rare variant mapping in complex disorders:

Current association studies have focused on common variation across the genome, as these are the easiest to identify with our current assays. However, disease-causing variants of large effect have been found to lie within exons in candidate gene studies, and because of negative selection, are found in much lower allele frequencies and may remain undetected in current standard genotyping assays. Whole genome sequencing is a potential method to assay novel variants across the genome. However, in complex disorders (such as autism), a large number of genes are thought to be associated with disease risk, meaning that very large sample sizes are required for gene discovery, and thus whole genome sequencing is not particularly cost-effective. This sample size issue is alleviated by the development of novel advanced analytic methods which effectively map disease genes despite the genetic contributions one rare rate at variant level. In addition, variants in coding regions have been much more extensively studied and their functional implications are much easier to derive, making the practical application of variants within the targeted exome region more immediately accessible.
Transcribed Image Text:**Introduction:** Body Mass Index is the official name of BMI. It is a measurement technique that divides people into four categories: obese, overweight, normal weight, and underweight. It is the ratio of your weight in kilograms to your square of the height in meters. **Step 2** **Q1. Answer:** Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons. Humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology. **Application:** Rare variant mapping in complex disorders: Current association studies have focused on common variation across the genome, as these are the easiest to identify with our current assays. However, disease-causing variants of large effect have been found to lie within exons in candidate gene studies, and because of negative selection, are found in much lower allele frequencies and may remain undetected in current standard genotyping assays. Whole genome sequencing is a potential method to assay novel variants across the genome. However, in complex disorders (such as autism), a large number of genes are thought to be associated with disease risk, meaning that very large sample sizes are required for gene discovery, and thus whole genome sequencing is not particularly cost-effective. This sample size issue is alleviated by the development of novel advanced analytic methods which effectively map disease genes despite the genetic contributions one rare rate at variant level. In addition, variants in coding regions have been much more extensively studied and their functional implications are much easier to derive, making the practical application of variants within the targeted exome region more immediately accessible.
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