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Clinical Reporting Standard Sequences

Clinical Reporting Standard Sequences . Deanna M. Church Staff Scientist, NCBI. Short Course in Medical Genetics 2013. @ deannachurch. Acknowledgements. Browser/Track Management . GeT -RM. Lisa Kalman (CDC) Birgit Funke (Harvard) Mahduri Hegde (Emory) Maryam Halavi Chao Chen

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Clinical Reporting Standard Sequences

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  1. Clinical Reporting Standard Sequences Deanna M. Church Staff Scientist, NCBI Short Course in Medical Genetics 2013 @deannachurch

  2. Acknowledgements Browser/Track Management GeT-RM Lisa Kalman (CDC) Birgit Funke(Harvard) MahduriHegde (Emory) Maryam Halavi Chao Chen Jon Trow Douglas Slotta Peter Meric Daniel Frishberg Victor Ananiev Wendy Rubinstein Victor Ananiev Cliff Clausen Ark Doubintchik Victor Joukov AnatoliyKuznetsov Peter Meric Liangshou Wu Eugene Yaschenko GVMS Paul Kitts Greg Schuler Donna Maglott Lon Phan Kim Pruitt Martin Shumway

  3. Huntington Disease Menkes Disease NF2 Tuberous Sclerosis Alagille Syndrome Angelman Deafness 1 APC Aniridia Fragile X Ataxia Telangiectasia Bloom syndrome SMA Hemochromatosis Long QT PKD2 Treacher Collins 1990 2000 2010 Myotonic Dystrophy Norrie Disease Wolfram RetinisPigmentosa Deafness 5 Achondroplasia BRCA1 PKD1 Adapted from http://www.ndsu.edu/pubweb/~mcclean/plsc431/homework/positional-cloning/

  4. http://www.ncbi.nlm.nih.gov/gtr

  5. http://www.ncbi.nlm.nih.gov/refseq/rsg/

  6. http://www.lrg-sequence.org/

  7. SLX4: NG_028123 Many RefSeqGene/LRG sequences are identical to the reference assembly

  8. PKD1: NG_008617 Insertion in PKD1 RefSeqGene

  9. Variants unique to RefSeqGene insertion T>C A>G

  10. Take home messages Gene testing began before there was a reference assembly Sequence as still stable and traceable. Often used in clinical reporting

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