Page 230 - ASHG 2013 Program Guide

POSTER SESSIONS
  217
POSTER SESSIONS
W=W
ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
esent
2563
F Clinical experience with TaGSCAN, a targeted
next-generation based sequencing test for 514 genes
using symptom-driven analysis.
C. J. Saunders, E.
Farrow, S. E. Soden, N. A. Miller, D. Dinwiddie, L. Willig, L.
Zellmer, L. Smith, S. F. Kingsmore.
2564
W Establishment of molecular diagnostic platform
for Leber congenital amaurosis using extensive multi-
gene panel sequencing.
S. H. Seo, Y. S. Yu, J. M. Hwang,
H. Park, S. I. Cho, S. S. Park, M. W. Seong.
2565
T Detection of low-level mosaic microdeletion in
neurofib omatosis type 1.
J. Xie, A. Poplawski, C. Fu, T.
Callens, J. Williams, H. Zhan, L. Messiaen.
2566
F Incorporating new disease genes into clinical
whole exome sequencing: Annotation update,
interpretation challenges and customized familial
studies.
Y. Yang, F. Xia, J. Beuten, Z. Niu, M. S. Leduc,
R. E. Person, M. T. Hardison, J. Zhang, M. Bainbridge, J.
G. Reid, A. C. Hawes, Y. Ding, A. A. Braxton, P. A. Ward,
M. L. Landsverk, A. Willis, D. M. Muzny, S. E. Plon, J.
R. Lupski, A. L. Beaudet, R. A. Gibbs, C. M. Eng, Baylor
Whole Genome Laboratory.
2567
W Implementation of a quality assurance program
for next-generation sequencing-based tests.
Z. Yu, M.
Sarmady, T. Tischler, B. A. Brown-Kipphut, M. Shafiq, N.
N. Fernandes, Z. Fan, M. S. Boltz, J. B. McKnight, B. N.
McLarney, L. C. Davidson, M. J. Italia, J. W. Pennington,
P. S. White, P. V. Warren, C. A. Stolle, A. Santani.
2568
T Non-invasive detection of genomic mutations
by targeted sequencing of plasma cell-free DNA.
J.
Namkung, K. Seo, Y. Lee.
2569
F A systematic approach to assessing the clinical
significance of genetic variants
H. Duzkale, J. Shen,
H. McLaughlin, A. Alfares, M. A. Kelly, T. J. Pugh, B. H.
Funke, H. L. Rehm, M. S. Lebo.
2570
W Assessment of detection of proviral DNA and RT
(
Met 184 Val) gene-resistance mutation in HIV-1 identifie
by Multiplex PCR and restriction fragment digestion
assay.
R. Shrestha, S. Khadka, S. R. Wagle, A. Sapkota.
2571
T International external quality assessment for
diagnostic next-generation sequencing.
S. Abbs,
J. Coxhead, P. Westwood, K. Thomson, H. Scheffer,
S. Bhaskar, G. Taylor, Z. Deans, S. Patton.
2572
F Development of a rapid and comprehensive
genetic testing service for nephrotic syndrome
using next-generation sequencing.
E. J. Ashton, D.
Bockenhauer, N. J. Lench.
2573
W Diagnostic exome sequencing can alter a
primary clinical diagnosis.
F. Taylan, M. Kvarnung,
A. Lindstrand, T. Bui, A. Nordgren, E. Blennow, M.
Nordenskjöld, D. Nilsson.
2574
T The importance of considering autosomal
genes for the diagnosis of non-syndromic intellectual
disability.
C. Tan, S. Topper, V. Nelakuditi, K. Arndt, F.
Kobiernicki, D. del Gaudio, N. Meeks, J. Saari, V. Misra,
S. Sastry, S. Levesque, L. Russell, G. Sillon, S. Das.
2551
F Success and flaws when using NGS for
molecular diagnosis.
K. Rocha, M. Lazar, G. Yamamoto,
M. Aguena, V. Takahashi, R. Pavanello, M. Passos-Bueno.
2552
W Clinical utility of next-generation sequencing for
the molecular diagnosis of genetically heterogeneous
retinitis pigmentosa.
J. Wang, V. W. Zhang, F. Y. Li, C.
Truong, G. Wang, P. W. Chiang, R. A. Lewis, L. J. Wong.
2553
T Evaluation of fragile X screening methods for
early detection of affected infants.
P. Mueller, J. Lyons,
G. Kerr.
2554
F Development and implementation of AJPNxt,
a 51 mutation Ashkenazi carrier screening panel built
on the Illumina BeadXPress™ platform.
J. M. Buis, S.
Birkeland, J. Sugalski, C. Holland, J. Stoerker.
2555
W Development of a target-capture gene panel for
clinical genomic sequencing in Bronx, NY.
M. Delio, K.
Patel, A. Maslov, J. Cai, J. Shan, S. Maqbool, B. Calder, A.
Golden, J. Greally, B. Morrow, J. Vijg, C. Montagna.
2556
T Clinical whole exome sequencing coupled with
whole mitochondrial genome sequencing at Baylor
Whole Genome Laboratory.
Y. Ding, D. M. Muzny, J.
G. Reid, A. C. Hawes, M. Wang, M. N. Bainbridge, N.
Veeraraghavan, Y. Han, H. Dinh, D. P. C. Ng, C. J. Buhay,
J. V. Korchina, M. L. Landsverk, V. Zhang, M. Scheel,
W. Liu, N. Saada, J. Ma, J. Chandarana, L. K. Dolores-
Freiberg, S. Matakis, R. Najjar, R. A. Gibbs, A. L. Beaudet,
C. M. Eng, Y. Yang.
2557
F
BRCA1/2
genomic rearrangements and
characterization of familial breast cancer.
Y. J. Hyun,
S. H. Seo, M. W. Seong, S. I. Cho, S. S. Park, S. W. Kim.
2558
W Utility and limitations of exome sequencing
for the molecular diagnosis of bilateral sensorineural
hearing loss.
V. Jayaraman, J. S. Brunton, A. Sasson, M.
Sarmady, J. L. Abrudan, M. C. Dulik, E. T. DeChene, S. E.
Noon, A. Wilkens, A. Dickinson, M. Kaur, L. K. Conlin, N.
B. Spinner, P. S. White, I. D. Krantz.
2559
T The Mayo Clinic experience with short stature
and search for genetic causes of idiopathic cases.
A.
Kochhar, J. Rustin, M. Goodenberger, Q. Stein, A. Mroch,
L. Borovik, L. Davis-Keppen, E. Thorland, G. Velagaleti, S.
Kirmani, A. Lteif, P. L. Crotwell, J. C. Hodge.
2560
F Two
HEXB
genotypes affect Tay-Sachs disease
carrier identification by enzymatic activity assa .
J. Liao, M. Luo, L. Shi, J. Goldman, L. Edelmann, C. Yu,
R. Kornreich.
2561
W Classification and interp etation of
PRSS1
,
SPINK1
and
CFTR
sequence variants found in
idiopathic and hereditary pancreatitis.
A. Millson,
C. Miller, E. Lyon.
2562
T Challenges of reporting incidental findings:
Follow-up on a
FBN1
mutation identified by clinical
WES testing.
Z. Niu, M. R. Bekheirnia, P. Ward, A.
Braxton, F. J. Probst, G. S. Patel, L. Immken, Y. Yang,
C. M. Eng.