№ files_lp_4_process_3_072561
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This document presents statistical data for exome sequencing, including total reads, read lengths, sequencing quality scores, and variations in genotypes across different samples.
Note:
Year
Topic:
Exome sequencing data
Document Type:
Statistical report
Target Audience:
Researchers, geneticists
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The product description is provided for reference. Actual content and formatting may differ slightly.
Year:
2026
Region / City:
N/A
Topic:
Genetic Testing, Exome Sequencing
Document Type:
Letter
Organization / Institution:
N/A
Author:
N/A
Target Audience:
Healthcare providers, medical practitioners
Validity Period:
N/A
Approval Date:
N/A
Modification Date:
N/A
Section:
Supplemental Materials
Abbreviations:
IOP; MEE/RHC; QC; GSA; PCA; LD; MAF; PC; WES; BAM; VCF; EUR; AFR; AMR; EAS; SAS; GQ; SNPs; MAD; GTEx; Non-PAR; Indels; HWE; AB; GWAS; FAME; GC; QTL; eQTL; CLPP; FDR; OHTN; RINT
Methodology:
Whole exome sequencing and statistical genetic analysis
Sequencing Platform:
NovaSeq S4 flow cell (2x151bp)
Library Preparation Kit:
KAPA Hyper Prep with Library Amplification Primer Mix (KK8504)
Capture Kit:
IDT XGen hybridization and wash kit
Custom Bait:
TWIST Biosciences exome bait
Liquid Handling Systems:
Agilent Bravo; Hamilton Starlet
Quantification Method:
qPCR; Invitrogen Quant-It broad range dsDNA assay
Genotyping Platform:
Global Screening Array (GSA)
Software:
PLINK 1.9; PLINK 2.0; R; Python; Hail v0.2
Reference Panel:
1000 Genomes Project Phase 3
Ancestry Groups:
European (EUR); African (AFR); Admixed American (AMR); East Asian (EAS); South Asian (SAS)
Statistical Analysis:
Analysis of variance (aov in R); Tukey honest significant difference test
Quality Control Criteria:
Sample-level and variant-level QC including genotype missingness, heterozygosity, relatedness (PI_HAT), sex concordance, ancestry inference, BAM and VCF metrics
Language:
English
Document Type:
Clinical documentation template
Medical Field:
Medical genetics
Subject:
Justification of medical necessity for exome sequencing
Purpose:
Clinical justification for ordering exome testing
Healthcare Context:
Diagnostic evaluation of patients with suspected genetic conditions
Test Type:
Exome sequencing
Clinical Components:
Patient medical history, family history, differential diagnosis, clinical management considerations
Clinical Actions Referenced:
Medication changes, dietary modifications, procedural or surveillance adjustments
Genetic Counseling Elements:
Inheritance education, recurrence risk assessment, prenatal diagnosis discussion
Patient Considerations:
Individuals with complex or unexplained clinical features suggesting genetic disease
Family Considerations:
Impact on relatives and reproductive planning
Post-Test Activity:
Follow-up genetic counseling after results disclosure
Year:
2017
Region / City:
N/A
Topic:
Genomic research, whole exome sequencing
Document Type:
Research Table
Author:
N/A
Target Audience:
Researchers, geneticists
Period of validity:
N/A
Date of approval:
N/A
Date of modifications:
N/A
OMIM Phenotypes:
Nephrotic syndrome, Gaucher disease, Cardiomyopathy, and others
Related pathways:
SOX9 biological pathway, transcription factors
Year:
2016
Region / City:
London, Swindon, Berkshire, Merseyside, Yorkshire, Sunderland
Topic:
Clostridium difficile infection, hospital infection control
Document Type:
Research article
Organization:
Guy’s & St Thomas’ NHS Foundation Trust, Great Western Hospitals NHS Foundation Trust, Heatherwood and Wexham Park Hospitals NHS Foundation Trust, St Helens & Knowsley Hospitals NHS Trust, Calderdale & Huddersfield NHS Foundation Trust, City Hospitals Sunderland NHS Foundation Trust
Author:
Not specified
Target Audience:
Healthcare professionals, researchers
Period of Validity:
Not specified
Approval Date:
Not specified
Modification Date:
Not specified
Context:
A research article detailing the comparison of C. difficile infection control measures across six hospitals in England using whole-genome sequencing to track transmission patterns.
Year:
2018
Region / City:
Not specified
Topic:
Performance Qualification for Sequencing System
Document Type:
Protocol
Organization / Institution:
Illumina, Inc.
Author:
Illumina, Inc.
Target Audience:
Illumina certified personnel
Period of Validity:
Not specified
Approval Date:
Not specified
Amendment Date:
Not specified
Year:
Annually
Region / City:
United States (CDC)
Topic:
Healthcare-Associated Infections, Antimicrobial Resistance
Document Type:
Report
Organ / Institution:
Centers for Disease Control and Prevention (CDC)
Author:
Not specified
Target Audience:
Funded laboratories, public health officials
Period of Validity:
Annual
Approval Date:
Not specified
Date of Changes:
Not specified
Year:
2024
Region / city:
Montclair, NJ
Topic:
DNA sequencing protocol
Document type:
Standard Operating Protocol (SOP)
Institution:
Montclair State University, Biology Department
Author:
Adam Parker
Target audience:
Laboratory technicians, researchers
Effective period:
Ongoing
Approval date:
8/22/2024
Revision date:
N/A
Year:
2015
Region / City:
N/A
Theme:
Molecular Ecology, Fungal Studies
Document Type:
Research Protocol
Organization:
Kennedy Lab
Authors:
Nhu Nguyen, Peter Kennedy
Target Audience:
Researchers in molecular ecology and fungal studies
Effective Period:
N/A
Approval Date:
N/A
Date of Changes:
April 22, 2015
Year:
2026
Region / City:
N/A
Topic:
Genetic Testing, Exome Sequencing
Document Type:
Letter
Organization / Institution:
N/A
Author:
N/A
Target Audience:
Healthcare providers, medical practitioners
Validity Period:
N/A
Approval Date:
N/A
Modification Date:
N/A
Year:
2021
Region / city:
UK
Theme:
Carbon Capture, Usage and Storage (CCUS), Environmental Policy
Document Type:
Project Plan, Government Report
Organization / institution:
Department for Business, Energy and Industrial Strategy (BEIS)
Author:
BEIS (Department for Business, Energy and Industrial Strategy)
Target audience:
Power CCUS Project applicants, governmental and regulatory bodies
Action period:
2021–2030
Approval date:
Not specified
Revision date:
Not specified
Year:
2019-2020
Region / City:
Shanghai, China
Field:
Medical research, oncology
Document type:
Research article
Institution:
Zhongshan Hospital Fudan University
Authors:
Not specified
Target audience:
Researchers, medical professionals
Study period:
May 2019 - February 2020
Approval date:
B2019-060R
Follow-up end date:
March 31, 2020
Year:
2002
Region / city:
Canada
Theme:
Molecular biology
Document type:
Scientific research data
Organization / institution:
Jones et al.
Author:
Jones et al.
Target audience:
Researchers in molecular biology
Period of validity:
Not specified
Approval date:
Not specified
Date of changes:
Not specified
Year:
2018
Region / City:
San Diego, California
Topic:
Genetic testing, Whole Genome Sequencing, Clinical Genetics
Document Type:
Medical Necessity Letter
Target Audience:
Medical professionals, insurance providers
Period of Validity:
Not specified
Approval Date:
Not specified
Date of Changes:
Not specified
Year:
2023
Note:
Region / City
Topic:
Legacy investigation case sequencing
Document Type:
Policy
Organization / Institution:
Legacy Investigation Branch
Author:
Deputy Head of Legacy Investigation Branch
Review Frequency:
Annually
Year:
2023
Region/City:
Hopewell
Topic:
Early Childhood Education, Story Sequencing
Document Type:
Lesson Plan
Institution:
Hopewell Elementary
Author:
Caitlin Donohue
Target Audience:
Preschool students
Effective Date:
2023-09-01
Date of Approval:
2023-09-01
Year:
2024
Region / city:
Utah
Subject:
Psychology
Document type:
Syllabus
Institution:
University of Utah, Department of Psychology
Instructor:
Kimberly Bowen, Ph.D.
Target audience:
Students of psychology, specifically those majoring or minoring in the College of Social & Behavioral Sciences
Period of validity:
Fall 2024
Date of approval:
Not specified
Date of changes:
Not specified
Course website:
https://utah.instructure.com/login/canvas
Class schedule:
Tu/Th 9:10-10:30am in ASB 210 (and lab sections 3000-002, 003, 004, 005, 006, 007)
Prerequisites:
C or better in PSY 1010 or equivalent, and specific math prerequisites
Office hours:
In-person: Tues 1-2:30pm, On Zoom: Thurs 2-3:30pm
Zoom link:
https://utah.zoom.us/j/4218918712