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Variant 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% ...
NGS Workshop Variant Calling and Structural Variants from
NGS Workshop Variant Calling and Structural Variants from
by dandy
Exomes. /WGS. Ramesh Nair. May 31, 2013. Outline. ...
Use of in silico algorithms for variant interpretation
Use of in silico algorithms for variant interpretation
by MommaBear
ACMG/AMP Variant . Interpretation . guidelines . (...
BioCuration Call: Sequence Variant Interpretation WG Update
BioCuration Call: Sequence Variant Interpretation WG Update
by Littlespud
Steven Harrison (. sharrison@bwh.harvard.edu. ). M...
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 ...
Sequence Variant Literature Search Tips and Tricks
Sequence Variant Literature Search Tips and Tricks
by wilson
Jessica Mester, MS, LCGC. Disclosure. I . am an em...
BioCuration WG Variant Curation
BioCuration WG Variant Curation
by ivy
Steven Harrison. June 8 2017. sharrison@bwh.harvar...
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...
Variant Classification and Reclassification
Variant Classification and Reclassification
by ida
Introduction. This slide presentation covers sever...
Hemoglobin Variant TraitWhat You Need to Know
Hemoglobin Variant TraitWhat You Need to Know
by hanah
Hemoglobin variant trait is common and can occur i...
ClinGen Sequence Variant Interpretation Recommendation for de novo Cri
ClinGen Sequence Variant Interpretation Recommendation for de novo Cri
by holly
-Version 11 Working Group Pagehttps//clinicalgenom...
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. , ...
VARIANT CALLING INTRODUCTION METHODS
VARIANT CALLING INTRODUCTION METHODS
by ellena-manuel
ZOOM ON. . GATK. Cedric Notredame. Adapted from ...
Robust Software Tools for Variant Identification and Func
Robust Software Tools for Variant Identification and Func
by jane-oiler
Assessment. (Boston College & University of M...
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...
Variant Analysis Introduction
Variant Analysis Introduction
by trish-goza
Deanna M. Church . Staff Scientist, NCBI. @. dean...
National Childhood Cancer Registry
National Childhood Cancer Registry
by walter434
Long Term Outcomes of Children and Young Adults wi...
CONGENITAL HYPERINSULINISM
CONGENITAL HYPERINSULINISM
by esteban
PROBAND. REQUEST FORM. Please provide the followi...
The NHLBI Exome Sequencing Project
The NHLBI Exome Sequencing Project
by avi989
Stephen S. Rich, PhD. September 30, 2013. NHLBI . ...
Screening of Genetic Variants in Familial Case of Myeloid Neoplasm Using Exome Sequencing
Screening of Genetic Variants in Familial Case of Myeloid Neoplasm Using Exome Sequencing
by edolie
State University of Campinas (UNICAMP). School of ...
The Genome Aggregation Database (
The Genome Aggregation Database (
by elizabeth
gnomAD. ). Konrad Karczewski. March 4, 2019. @konr...
Breakout session 1 Somatic-to-germline
Breakout session 1 Somatic-to-germline
by unita
testing . pathways. Format. Round table discussion...
Clinical interpretation of genomic variants
Clinical interpretation of genomic variants
by trinity
Harriet Feilotter, PhD, FCCMG, FACMG. Professor, D...
MCSA Journal Club February 2019
MCSA Journal Club February 2019
by eleanor
Presented by: . Mélissa. Savard. White Matter Al...
Agents of Evolution Macroevolution Microevolution
Agents of Evolution Macroevolution Microevolution
by erica
Evolution of one ancestral species to new distinct...
NGS applications in molecular medicine
NGS applications in molecular medicine
by callie
Vojtěch Bystrý. CEITEC Bioinformatics Core Facil...
Figure 2 Figure 2. Magnetic resonance imaging (MRI) results for a US patient with variant Creutzfel
Figure 2 Figure 2. Magnetic resonance imaging (MRI) results for a US patient with variant Creutzfel
by carny
Maheshwari A, Fischer M, Gambetti P, Parker A, Ram...
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 ...
Cancer Sequencing What is Cancer?
Cancer Sequencing What is Cancer?
by harmony
Definitions. A class of diseases characterized by ...
Cancer Sequencing Credits for slides: Dan
Cancer Sequencing Credits for slides: Dan
by lily
Newburger. What is Cancer?. Definitions. A class o...
Practical Precision Medicine: Integration of clinical
Practical Precision Medicine: Integration of clinical
by mia
and genomic . data to support cancer . research an...
“Australia’s worst female serial killer”
“Australia’s worst female serial killer”
by wang
1. The . Folbigg. children. 2. CALEB. PATRICK. SA...
Moderní metody pro analýzu genomu: Bioinformatika I
Moderní metody pro analýzu genomu: Bioinformatika I
by mia
Vojtěch Bystrý. 29. . October. 2018. Goals of t...
Evolutionary Action is a Unifying Framework for Assessing Missense Variant Structures Within &
Evolutionary Action is a Unifying Framework for Assessing Missense Variant Structures Within &
by eliza
. Nicholas Abel. nabel@bcm.edu. Evolutionary Trace...
Influenza (Family Orthomyxoviruses
Influenza (Family Orthomyxoviruses
by harper
). Type A. Type B. Type C. ~150 subtypes. Strains....
Information Disclosure in Software Intensive Systems
Information Disclosure in Software Intensive Systems
by megan
p. rof., dr. Vladimir Dimitrov. University of Sofi...