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Variant 2013variant published presentations and documents on DocSlides.

COVID-19 UPDATE: OMICRON UPDATE

COVID-19 UPDATE: OMICRON UPDATE

  • fiona
  • 35 Slides

David J. Weber, MD, MPH, FIDSA, FSHEA, FRSM (Londo...

BioCuration WG Variant Curation

BioCuration WG Variant Curation

  • ivy
  • 42 Slides

Steven Harrison. June 8 2017. sharrison@bwh.harvar...

EHRI Working Group Panel

EHRI Working Group Panel

  • emma
  • 20 Slides

Lessons Learned & Future Directions. Human Gen...

Hearing Loss CDWG Curation

Hearing Loss CDWG Curation

  • leah
  • 25 Slides

Update. Biocurator. Call. 5.11.17. Marina DiStefa...

Scotland and Northern Ireland General EQA Scheme

Scotland and Northern Ireland General EQA Scheme

  • davis
  • 22 Slides

Educational cases . E1&E2. Dr Kate Struthers ....

Sequence Variant Literature Search Tips and Tricks

Sequence Variant Literature Search Tips and Tricks

  • wilson
  • 21 Slides

Jessica Mester, MS, LCGC. Disclosure. I . am an em...

300 Natasha Strande Ph.D.

300 Natasha Strande Ph.D.

  • badra
  • 21 Slides

Department of Genetics. UNC Chapel Hill. strande@e...

Transcripts: Background and Curation Strategies

Transcripts: Background and Curation Strategies

  • ethlyn
  • 36 Slides

Marina DiStefano, Ph.D.. Clinical Molecular Geneti...

Demographic inference using

Demographic inference using

  • bency
  • 23 Slides

exon. data . Simon Gravel. Stanford University. T...

Are you ready for the genomic age

Are you ready for the genomic age

  • ivy
  • 49 Slides

? . An . introduction to human . genomics. Jacques...

Introduction C9ORF72 Variant-Specific RNA Interference

Introduction C9ORF72 Variant-Specific RNA Interference

  • heavin
  • 1 Slides

Rescues C9-ALS/FTD Molecular Hallmarks . In Vivo. ...

ClinGen RASopathy EP Gene Curation

ClinGen RASopathy EP Gene Curation

  • morton
  • 31 Slides

Biocurator Working Group Presentation. 5.10.2018. ...

1 Goals The goal of this talk is to introduce the wonderful concept of a mono-variant, and show how

1 Goals The goal of this talk is to introduce the wonderful concept of a mono-variant, and show how

  • megan
  • 57 Slides

It is a mix of math and art – it is a wonderful ...

Delta Variant and Monoclonal Antibodies: An Update

Delta Variant and Monoclonal Antibodies: An Update

  • ani
  • 29 Slides

Atul Kothari, MD FIDSA. Medical Director Healthcar...

NGS and Bioinformatics

NGS and Bioinformatics

  • teresa
  • 25 Slides

Dr. Ronald Moura. ronaldmoura1989@gmail.com. https...

National Genomic Test Directory Criteria R367

National Genomic Test Directory Criteria R367

  • scarlett
  • 2 Slides

1. Patient has pancreatic cancer age <50 years,...

CNV J arr [GRCh37] 3q28 (190380498_191783134)x1

CNV J arr [GRCh37] 3q28 (190380498_191783134)x1

  • alyssa
  • 16 Slides

No phenotype or inheritance information provided. ...

Imaging for Uncomplicated

Imaging for Uncomplicated

  • luna
  • 33 Slides

Headache. When to Image Based on . Choosing . Wise...

Gene identifier Species Forward

Gene identifier Species Forward

  • adah
  • 4 Slides

primer (5'-3'). Reverse primer (5'-3'). Dact3. Hum...

Li- Fraumeni Syndrome Wendy Kohlmann, MS, CGC

Li- Fraumeni Syndrome Wendy Kohlmann, MS, CGC

  • HappyHusky
  • 17 Slides

Licensed Genetic Counselor. University of Utah . H...

Using the whole read: Structural Variation detection with RPSR

Using the whole read: Structural Variation detection with RPSR

  • MsPerfectionist
  • 29 Slides

Presented by Derek Bickhart. Presentation Outline....

Cancer Registration in the Era of Genomics: Integrating Germline and Somatic Genetic Data into the

Cancer Registration in the Era of Genomics: Integrating Germline and Somatic Genetic Data into the

  • SoulfulDreamer
  • 20 Slides

Dr Fiona McRonald 11. th. June 2019. N...

Looking ahead: Genomic Laboratory Hub

Looking ahead: Genomic Laboratory Hub

  • LaughsALot
  • 22 Slides

Rachel Butler, Head of Bristol Genetics Laboratory...

BioCuration Call: Sequence Variant Interpretation WG Update

BioCuration Call: Sequence Variant Interpretation WG Update

  • Littlespud
  • 37 Slides

Steven Harrison (. sharrison@bwh.harvard.edu. ). M...

LHON/LHON plus Andrea Gropman, M.D

LHON/LHON plus Andrea Gropman, M.D

  • SunnySailor
  • 28 Slides

., FAAP, FACMG, FANA. Children’s National Health...

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca

A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca

  • VanillaSky
  • 9 Slides

v. 3.2 T-type channel activity. Robin N. Stringer,...

Case P arr [GRCh37] 17q21.2

Case P arr [GRCh37] 17q21.2

  • Princecharming
  • 12 Slides

(39529437_39545915) x3 mat. 10-year-old female wit...

Sequence Feature Variant Type and Evolutionary Trajectory Analysis using the Influenza Research Dat

Sequence Feature Variant Type and Evolutionary Trajectory Analysis using the Influenza Research Dat

  • Dragonlord
  • 73 Slides

19 July 2011. Richard H. Scheuermann, Ph.D.. Depar...

Use of in silico algorithms for variant interpretation

Use of in silico algorithms for variant interpretation

  • MommaBear
  • 19 Slides

ACMG/AMP Variant . Interpretation . guidelines . (...

CPIC guideline in progress

CPIC guideline in progress

  • CharmingCheeks
  • 35 Slides

MT-RNR1/aminoglycosides-in review (just resubmitte...

An Approach to Hemoglobinopathy Investigations

An Approach to Hemoglobinopathy Investigations

  • Shadowlord
  • 54 Slides

#. everythingyouneedtoknow. Dr. . Tish O’Reilly,...

Pseudo DNA Sequence Generation

Pseudo DNA Sequence Generation

  • Princecharming
  • 26 Slides

of . Non-coding Distributions . using . Stream Cip...

Highlighting Excellent Research at ACEGID

Highlighting Excellent Research at ACEGID

  • MusicalMadness
  • 34 Slides

Judith U. Oguzie. , DVM. PhD Research Fellow, Worl...

Enabling Complex Multi-variant Product Configuration, Pricing & Delivery Across the Global Sale

Enabling Complex Multi-variant Product Configuration, Pricing & Delivery Across the Global Sale

  • BubblyBlonde
  • 15 Slides

Shenzhen Mindray Bio-Medical Electronics Co. Ltd.....

5 Figure 5: Structure of the chlorinated variant of eosin Y and its PBE/6-31G(d)

5 Figure 5: Structure of the chlorinated variant of eosin Y and its PBE/6-31G(d)

  • Lionheart
  • 1 Slides

On The . Colour. of Fountain Pen Inks. a. Kaitlin...

A Case Report of Variant Origin of Left Vertebral Artery from Aortic A

A Case Report of Variant Origin of Left Vertebral Artery from Aortic A

  • piper
  • 4 Slides

209 * Corresponding Author:Address: Department of ...

Vol 107 N 7 2015MPLICATIONVARIANTHEPATICARTERY

Vol 107 N 7 2015MPLICATIONVARIANTHEPATICARTERY

  • jovita
  • 5 Slides

inltrated by the tumor, it may be necessary t...

IN SUMMARY Genes contain the instructions for growth and development

IN SUMMARY Genes contain the instructions for growth and development

  • arya
  • 6 Slides

We all have a number of recessive gene variants wh...

Page 2 of 10Wangetal BMC Pediatrics 2022 22284

Page 2 of 10Wangetal BMC Pediatrics 2022 22284

  • danya
  • 10 Slides

consists of 34 exons and widely expresses in liver...

ORTHOPEDICS

ORTHOPEDICS

  • white
  • 2 Slides

Intoe, Bowlegs, Flat Feet and Other Things Not to...

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