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Variant-Points published presentations and documents on DocSlides.

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...
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% ...
points points points points points points
points points points points points points
by liane-varnes
brPage 1br 91 points 91 points 91 points 91 points...
points points points points points points
points points points points points points
by giovanna-bartolotta
brPage 1br 92 points 92 points 92 points 92 points...
BioCuration Call: Sequence Variant Interpretation WG Update
BioCuration Call: Sequence Variant Interpretation WG Update
by Littlespud
Steven Harrison (. sharrison@bwh.harvard.edu. ). M...
Case Z arr [GRCh37] 19p13.11(18291753_18311626) x3
Case Z arr [GRCh37] 19p13.11(18291753_18311626) x3
by berey
2-month-old female with Tetralogy of Fallot; inher...
Case P arr [GRCh37] 17q21.2
Case P arr [GRCh37] 17q21.2
by Princecharming
(39529437_39545915) x3 mat. 10-year-old female wit...
CNV J arr [GRCh37] 3q28 (190380498_191783134)x1
CNV J arr [GRCh37] 3q28 (190380498_191783134)x1
by alyssa
No phenotype or inheritance information provided. ...
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 . (...
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...
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...
CRAPS Pass Line Bet to Come Bet to Pass Line Odds Come Bet Odds and Buy Bets Points of or to Points of or to Points of or to Place Bets to Win Points of or to Points of or to
CRAPS Pass Line Bet to Come Bet to Pass Line Odds Come Bet Odds and Buy Bets Points of or to Points of or to Points of or to Place Bets to Win Points of or to Points of or to
by tawny-fly
0XVW57347EH57347573645737257347HDUV57347RI57347DJ...
EH SERIES ELECTRONIC RECORDER MODEL EH Recorder MODELS EH pen continuous writing D point dotting points dotting points dotting points dotting points dotting points dotting p
EH SERIES ELECTRONIC RECORDER MODEL EH Recorder MODELS EH pen continuous writing D point dotting points dotting points dotting points dotting points dotting points dotting p
by natalia-silvester
OF MEASURING POINT INPUT IPSE279A brPage 2br EH S...
Play the Darts Game Object To row with a consistent stroke rate and power output Time minutes Number of Darts strokes Points points for a bulls eye and points for next three rings
Play the Darts Game Object To row with a consistent stroke rate and power output Time minutes Number of Darts strokes Points points for a bulls eye and points for next three rings
by celsa-spraggs
Perfect Score 15000 points How to set up the PM4 ...
2012 TRIPLE BLACK SLOPEINOOIR
2012 TRIPLE BLACK SLOPEINOOIR
by giovanna-bartolotta
92 Points 92 Points 92 Points 92 Points 92 Points ...
Case E arr [GRCh37] 15q13.2
Case E arr [GRCh37] 15q13.2
by miller
(30507853_30807921) x1 pat. 6 month old male with ...
Case T arr [GRCh37] 1q22
Case T arr [GRCh37] 1q22
by ceila
(155887333_156224120) x3. Newborn with unspecified...
Case S arr [GRCh37] 3q26.32
Case S arr [GRCh37] 3q26.32
by paisley
(175816894_177834521)x3 mat. 6-year-old male with ...
Case O arr [GRCh37] 4p16.1
Case O arr [GRCh37] 4p16.1
by ButterflyPrincess
(8952198_9486394)x3 . dn. 7-year-old male with lis...
Hearing Loss CDWG Curation
Hearing Loss CDWG Curation
by leah
Update. Biocurator. Call. 5.11.17. Marina DiStefa...
Case F arr [GRCh37] 1p36.33
Case F arr [GRCh37] 1p36.33
by harmony
(1379519_1435227)x1. 2-month-old female with unila...
Case N arr [GRCh37] 10q22.2
Case N arr [GRCh37] 10q22.2
by blanko
(76738122-76743018) x3 . 4 year old female with de...
Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (
Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (
by ivy
dn. ). 5-year-old female with developmental delay;...
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 ...