№ lp_1_2_45037
File format: docx
Character count: 14915
File size: 419 KB
Year:
2022
Region / City:
Not specified
Topic:
Variant Configuration, Make-to-Order Production, Sales Kits
Document Type:
Test Script
Organization / Institution:
SAP
Author:
Not specified
Target Audience:
SAP users involved in testing variant configuration and make-to-order production processes
Effective Period:
Not specified
Approval Date:
Not specified
Date of Changes:
Not specified
Contextual Description:
Detailed test procedure for make-to-order production of sales kits using advanced variant configuration in SAP S/4HANA for a customer-specific robot bundle configuration.
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Year:
2024
Region / City:
N/A
Topic:
BRCA1 & BRCA2 variant classification
Document type:
Classification guidelines
Organization / Institution:
ACMG/AMP, ENIGMA
Author:
Variant Curation Expert Panel
Target audience:
Geneticists, researchers, healthcare professionals
Period of validity:
N/A
Approval date:
2024-11-18
Modification date:
N/A
Year:
2023
Region / City:
Global
Topic:
Variant Classification
Document Type:
Technical Specification
Organization / Institution:
ACMG/AMP, ENIGMA Variant Curation Expert Panel
Author:
Unknown
Target Audience:
Researchers, Geneticists, Clinicians
Period of Validity:
Ongoing
Approval Date:
2023-04-27
Date of Changes:
None
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
Year:
2023
Region / city:
Bristol
Topic:
Job Description, Peer Support, Trans and Non-binary Community
Document type:
Job Description
Organization:
SARSAS
Author:
SARSAS
Target audience:
Trans, non-binary, intersex, or gender variant individuals seeking a facilitating role
Period of validity:
6th February 2023 to end July 2023
Approval date:
6th February 2023
Modification date:
None
Note:
Year
Document Type:
Technical Passport
Issuing Organization:
RACB
Author:
RACB Sport
Target Audience:
Car manufacturers, car enthusiasts, regulatory bodies
Year:
Not specified
Country of origin:
Surinam
Institution:
The Hemoglobin University
Authors:
Bento C; Traeger-Synodinos J; Kountouris P; et al.
Thematic area:
Hematology; Hemoglobinopathies; Molecular genetics
Document type:
Case report submission form
Gene:
HBB
Protein variant:
p.Glu7Val
cDNA variant:
c.20A>T
Variant name:
HbS
Database accession:
HbVar ID 226; IthaID 824
Phenotype:
Abnormal Doppler; organ failure due to vaso-occlusive crisis; skeletal dysplasia
Alpha genotype:
-alpha3.7/-alpha3.7
Beta genotype:
betaS/betaS
Age at evaluation:
56 years
Age at diagnosis:
2 months
Sex at birth:
Female
Family history:
Two sisters carriers of HbS
Clinical history:
Hydroxyurea treatment from childhood until 54 years; uncomplicated pregnancy at 23 years; exchange transfusion started at 54 years
Hematological parameters before transfusion:
Reported at age 53 years (Hb, MCV, MCH, RBC, Hct, Ret, RDW)
Iron status:
Ferritin 35 µg/L
Blood smear:
Target cells at normal iron indicative of alpha-thalassemia trait
Biochemical studies:
Capillary electrophoresis (Sebia); HPLC (Trinity PHR)
Molecular studies:
Sanger sequencing of exon 1 of HBB gene
Transfusion status:
Exchange transfusion from age 54 years
Note:
Year
Context:
Educational exercise for learning English vocabulary and sentence structure, focusing on animals and abilities.
Year:
2018
Region / City:
Bresso
Topic:
cgMLST targets, bacterial strain variation
Document Type:
Table
Organization:
Not specified
Author:
Not specified
Target Audience:
Researchers in molecular biology, genetics, and epidemiology
Period of validity:
Not specified
Date of approval:
Not specified
Date of changes:
Not specified
Year:
2024
Region / Institution:
University of Manchester, University of Leicester, Leiden University Medical Center, Johns Hopkins University, Massachusetts General Hospital
Subject:
Genetic variant nomenclature, bioinformatics, rare disease diagnostics
Document type:
Research article
Authors:
Peter J. Freeman, John F. Wagstaff, Ivo F.A.C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela C. Davies, Johan T. den Dunnen, Liam J. Gretton, Raymond Dalgleish
Target audience:
Clinical scientists, geneticists, bioinformaticians
Methodology / Tools:
VariantValidator, VariantFormatter, REST API, HGVS nomenclature standards
Key databases:
ClinVar, Leiden Open Variation Database (LOVD), Universal Transcript Archive (UTA)
Integration:
Genomics workflows, omics platforms, journal publishing systems
Data coverage:
Human genome builds GRCh37 and GRCh38, RefSeq and Ensembl transcripts
Updates:
Continuous development since 2018, support for RNA descriptions, iterative user-driven improvements
Publication date:
2024
Year:
Not specified
Region / City:
Not specified
Subject:
English language test
Document type:
Educational test
Author:
Not specified
Target audience:
English learners
Validity period:
Not specified
Approval date:
Not specified
Modification date:
Not specified