Upload
Featured Recent Articles Topics Login Upload

Search Results for 'Variant'

Variant published presentations and documents on DocSlides.

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...
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...
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...
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...
Variant Analysis Introduction
Variant Analysis Introduction
by trish-goza
Deanna M. Church . Staff Scientist, NCBI. @. dean...
CONGENITAL HYPERINSULINISM
CONGENITAL HYPERINSULINISM
by esteban
PROBAND. REQUEST FORM. Please provide the followi...
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...
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...
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...
Information Disclosure in Software Intensive Systems
Information Disclosure in Software Intensive Systems
by megan
p. rof., dr. Vladimir Dimitrov. University of Sofi...
Data Analysis in Next Generation
Data Analysis in Next Generation
by susan2
Sequencing. . Paolo Aretini . Senior . Researcher...
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-Control studies Bryce Seifert, Ph.D.
Case-Control studies Bryce Seifert, Ph.D.
by blanko
and . Jen . McGlaughon, Ph.D. .. Biocurator. Work...
Papillary thyroid carcinoma
Papillary thyroid carcinoma
by melody
Tall cell variant. 5 - 10% of PTCs . Usually old...
Neurodevelopmental CDWG Update: The curation of a complicated gene-disease relationship (
Neurodevelopmental CDWG Update: The curation of a complicated gene-disease relationship (
by taylor
RELN). On behalf of the. ID/Autism GCEP. 5/9/2019....
NGS Workshop Variant Calling
NGS Workshop Variant Calling
by emma
Ramesh Nair. 9/12/2012. Outline. Types of genetic ...
Figure 2 Figure 2. . Immunohistochemical staining of cerebellar tissue of the patient who died of v
Figure 2 Figure 2. . Immunohistochemical staining of cerebellar tissue of the patient who died of v
by callie
Belay ED, Sejvar JJ, Shieh W, Wiersma ST, Zou W, G...
Figure Figure. Estimated influence of age on a) risk for infection with the variant Creutz
Figure Figure. Estimated influence of age on a) risk for infection with the variant Creutz
by mary
Bacchetti P. Age and Variant Creutzfeldt-Jakob Dis...
httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics
httpsmedlineplusgovgeneticshttpsmedlineplusgovgenetics
by cecilia
1 GM2-gangliosidosis, AB variant Description GM2-g...
Vol 107 N 7 2015MPLICATIONVARIANTHEPATICARTERY
Vol 107 N 7 2015MPLICATIONVARIANTHEPATICARTERY
by jovita
inltrated by the tumor, it may be necessary t...
Case P arr [GRCh37] 17q21.2
Case P arr [GRCh37] 17q21.2
by Princecharming
(39529437_39545915) x3 mat. 10-year-old female wit...
Looking ahead: Genomic Laboratory Hub
Looking ahead: Genomic Laboratory Hub
by LaughsALot
Rachel Butler, Head of Bristol Genetics Laboratory...
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....
Gene identifier Species Forward
Gene identifier Species Forward
by adah
primer (5'-3'). Reverse primer (5'-3'). Dact3. Hum...
Imaging for Uncomplicated
Imaging for Uncomplicated
by luna
Headache. When to Image Based on . Choosing . Wise...
CNV J arr [GRCh37] 3q28 (190380498_191783134)x1
CNV J arr [GRCh37] 3q28 (190380498_191783134)x1
by alyssa
No phenotype or inheritance information provided. ...
Delta Variant and Monoclonal Antibodies: An Update
Delta Variant and Monoclonal Antibodies: An Update
by ani
Atul Kothari, MD FIDSA. Medical Director Healthcar...
300 Natasha Strande Ph.D.
300 Natasha Strande Ph.D.
by badra
Department of Genetics. UNC Chapel Hill. strande@e...