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Variants-Cancer published presentations and documents on DocSlides.

RESULTS After editing and excluding multi-allelic variants 48,056,551 polymorphic variants in the 1
RESULTS After editing and excluding multi-allelic variants 48,056,551 polymorphic variants in the 1
by amey
11% of the edited variants were insertions and 4% ...
Pre-filters 178471 variants
Pre-filters 178471 variants
by garcia
Short listed in Phase . I. analysis. 69 . variant...
Common variants and their contribution to
Common variants and their contribution to
by phoebe
heritability. (“GWAS and heritability”). peter...
Spectrum of genetic variants associated with Familial Hypercholesterolemia and phenotype / genotype
Spectrum of genetic variants associated with Familial Hypercholesterolemia and phenotype / genotype
by udeline
Sample & Methods. . 100 index cases (IC): 87 ...
The role of selected genetic variants in poodle body size
The role of selected genetic variants in poodle body size
by amber
Presenter: Scarlett Varney. Authors: Scarlett Varn...
NEONATAL SPINAL SONOGRAPHY: CASE BASED REVIEW OF NORMAL VARIANTS
NEONATAL SPINAL SONOGRAPHY: CASE BASED REVIEW OF NORMAL VARIANTS
by natalia-silvester
Ankit Mehta. 1. , Tyson R . Finlinson. 1. , Bradl...
Are My Genes Mutated? Analyzing Loss of Function Variants in the Human Genome
Are My Genes Mutated? Analyzing Loss of Function Variants in the Human Genome
by pamella-moone
Group A1. Caroline . Kissel. , Meg . Sabourin. , ...
Rare and common variants: twenty arguments
Rare and common variants: twenty arguments
by pasty-toler
G.Gibson. Homework. 3. Mylène Champs. Marine Fl...
Human genetic variation: Recombination, rare variants and s
Human genetic variation: Recombination, rare variants and s
by karlyn-bohler
Gil . McVean. There are no new questions in popul...
Analysis of imputed rare variants
Analysis of imputed rare variants
by celsa-spraggs
Andrew Morris. Advanced Topics in GWAS. Toronto, ...
The NHLBI Exome Sequencing Project
The NHLBI Exome Sequencing Project
by avi989
Stephen S. Rich, PhD. September 30, 2013. NHLBI . ...
The Genome Aggregation Database (
The Genome Aggregation Database (
by elizabeth
gnomAD. ). Konrad Karczewski. March 4, 2019. @konr...
Phenotypic characterization:
Phenotypic characterization:
by tremblay
Refining the denominator. David Valle, MD. McKusic...
MCSA Journal Club February 2019
MCSA Journal Club February 2019
by eleanor
Presented by: . Mélissa. Savard. White Matter Al...
Compound Heterozygous (CH) Variants
Compound Heterozygous (CH) Variants
by lily
What is a CH Variant?. . Child has a recessive al...
Building on GWAS for HLB-disease: the US CHARGE Consortium
Building on GWAS for HLB-disease: the US CHARGE Consortium
by vivian
(CHARGE-S). Eric Boerwinkle. Washington DC. April ...
Hemimelia in Chihuahuas Marin Green
Hemimelia in Chihuahuas Marin Green
by tabitha
Bannasch Lab. STAR 2023. Background. Bilateral Ant...
Everybody i s Kung-Flu Fighting: Deep Sequencing of Clinical Influenza A virus Reveals Patterns of
Everybody i s Kung-Flu Fighting: Deep Sequencing of Clinical Influenza A virus Reveals Patterns of
by amey
Acid Substitutions. Emma . Roth. 1. , Brian Aeverm...
Influenza (Family Orthomyxoviruses
Influenza (Family Orthomyxoviruses
by harper
). Type A. Type B. Type C. ~150 subtypes. Strains....
Fernandez-Carazo, Rafael;
Fernandez-Carazo, Rafael;
by anderson
Koopmansch. , Benjamin; . Palmeira. , . Leonor. , ...
GWAS Consortia and Meta-Analysis
GWAS Consortia and Meta-Analysis
by clara
Inês Barroso. Joint Head of Human Genetics. Metab...
Ilaria Ferrarotti Centro per la Diagnosi del Deficit di Alfa1-Antitripsina
Ilaria Ferrarotti Centro per la Diagnosi del Deficit di Alfa1-Antitripsina
by cecilia
Fondazione IRCCS Policlinico S. . Matteo. Dipartim...
What Have We Learned? Using all associated or even all genotyped SNPs explains much more h2 than g
What Have We Learned? Using all associated or even all genotyped SNPs explains much more h2 than g
by ashley
Rare variants have larger effects but collectively...
Product Definition Scenario Overview
Product Definition Scenario Overview
by callie
Defining Product Properties and Product Models. Sp...
What should a psychiatrist know about genetics?
What should a psychiatrist know about genetics?
by edolie
ISPG Residency Education Taskforce. Introduction. ...
NHGRI Meeting April 2, 2023 – April 4, 2023
NHGRI Meeting April 2, 2023 – April 4, 2023
by anya
Salt Lake City, Utah. Monica Dave. iPSC-derived pr...
Genetic Association Analysis
Genetic Association Analysis
by williams
Clement Ma. Sequence Analysis Workshop. May 21, 20...
Current Biology Vol 22 No 17
Current Biology Vol 22 No 17
by lucy
As an alternative, Speakman has putforward a non-a...
Canavan disease
Canavan disease
by cadie
Version 10 Contact details Regional Genetics Serv...
Cerebral Palsy – Multiple pathways, outcomes and genetic variants
Cerebral Palsy – Multiple pathways, outcomes and genetic variants
by RockinOut
American Journal of Obstetrics & Gynecology 20...
New variation resources at the UCSC Genome Browser
New variation resources at the UCSC Genome Browser
by BraveBlackbird
Brooke Rhead, Angie S. . Hinrichs. , Timothy R. . ...
Low-mutation-rate, reduced-genome
Low-mutation-rate, reduced-genome
by Goofball
Escherichia coli. : an improved host for faithful ...
Using the whole read: Structural Variation detection with RPSR
Using the whole read: Structural Variation detection with RPSR
by MsPerfectionist
Presented by Derek Bickhart. Presentation Outline....
ClinGen RASopathy EP Gene Curation
ClinGen RASopathy EP Gene Curation
by morton
Biocurator Working Group Presentation. 5.10.2018. ...
Introduction C9ORF72 Variant-Specific RNA Interference
Introduction C9ORF72 Variant-Specific RNA Interference
by heavin
Rescues C9-ALS/FTD Molecular Hallmarks . In Vivo. ...
Hemoglobin Variation Dr Sunita Mittal
Hemoglobin Variation Dr Sunita Mittal
by cora
Learning Objectives. ▪ . Different . Hemoglobin ...
Introduction to genetic association studies in
Introduction to genetic association studies in
by mary
Africa. Dr Kirk Rockett. Wellcome. Trust Advanced...
Diagnostic and Research Utility of Whole Exome Sequencing for Cardiac Disease
Diagnostic and Research Utility of Whole Exome Sequencing for Cardiac Disease
by obrien
Gloria T. Haskell. 1. , Brian C. . Jensen. 3. , Ce...
Variant Classification and Reclassification
Variant Classification and Reclassification
by ida
Introduction. This slide presentation covers sever...
Results Generation of Pathogenic and Benign
Results Generation of Pathogenic and Benign
by madeline
BRCA2. Variants. by Site-Directed Mutagenesis. Me...