Page 229 - ASHG 2013 Program Guide

ednesday authors will present; T=Thursday authors will present; F=Friday authors will pr
W Analytical performance of a next-generation
DNA sequencing-based clinical workflow for geneti
carrier screening.
G. J. Porreca, M. Umbarger, C. Kennedy,
P. Saunders, B. Breton, N. Chennagiri, D. Maganzini.
T Targeted exome sequencing identifies two
variants in a fetus with
short-rib-polydactyly syndrome.
K. I. Varvagiannis,
P. Makrythanasis, F. Santoni, J.-M. Pellegrinelli, P.
Extermann, C. Brockmann, C. Gehrig, M. Guipponi, J.-L.
Blouin, S. E. Antonarakis, S. Fokstuen.
F Validation of an accurate, high-throughput
multiplex qPCR assay to confirm CMA clinical
L. E. Northrop, V. Aggarwal, V. Jobanputra,
M. Mansukhani, B. Levy.
W Detection and quantification of somatic
mutations in Klippel-Trenaunay syndrome using
digitally counted nanodroplets.
N. M. K. Kamitaki,
V. Luks, R. Murillo, S. A. McCarroll, M. Warman.
T Prenatal testing of novel mutations of maple
syrup urine disease by next-generation sequencing.
S. Chen, X. Li, H. Ge, X. Pan, F. Chen, H. Jiang.
F New allele-specific eal-time PCR system with
automatic interpretative program for genotyping of
SNPs related to pharmacogenetics.
D. Kim, S. Byun,
J. Seo, C. Lee.
W Discrepant Tay-Sachs disease enzyme and
DNA carrier screening results in the African American
D. Neitzel, H. Travassos, N. Faulkner, S.
Hallam, V. Greger.
T Diagnostic sequencing — Implemention into
routine processes.
K. Stangier, T. Paprotka.
F Molecular genetic diagnosis of Fanconi anemia
in Chinese patients.
X. Chen, H. Liu, W. Teng, F. Wang,
Y. Wang, Q. Yin, M. Wang, L. Guo, P. Zhu.
W Estimating the contribution of unidentified
mutations in autosomal recessive disorders.
L. P. ten
Kate, M. E. Teeuw, A. Sefiani, F.-Z. Laarabi, I. Hama, L.
Henneman, M. C. Cornel.
T The effect of long-term frozen storage of urine
samples on the detection of
Chlamydia trachomatis
in comparison to preserved, room temperature urine
M.AK Abdalla, M. El-Mogy, C. Moreira, R.
DiPietro, T. A. Haj-Ahmad, Y. Haj-Ahmad.
F De novo occurrence of
deletions: Parental
origin and frequencies.
K. Eggermann, T. Eggermann,
K. Zerres, S. Rudnik-Schöneborn.
W A connective tissue disorders NGS panel:
Development, validation, and novel findings
J. Lee, M.
Basehore, S. McGee, K. Kubiak, K. King, K. Champion, J.
Jones, M. Friez.
T Validation of clinical NGS vs. Sanger
sequencing: Measuring the value of orthogonal testing.
S. Lincoln, S. Kash, Y. Kobayashi, G. Nilsen, J. Sorenson,
M. Cargill, R. Scott.
W Simultaneous detection of point mutations
and exonic deletions by target gene capture and
deep sequencing.
Y. Feng, G.-L. Wang, H. Cui, J. Wang,
V. W. Zhang, L.-J. Wong.
T Next-generation sequencing coupled with
a novel multiplex PCR protocol for comprehensive
genetic screening of maturity onset diabetes of the
young in India.
A. Chapla, D. M. Mahesh, D. Varghese,
S. V. Nadig, H. S. Asha, R. T. Varghese, M. Inbakumari,
F. Christina, S. Mathai, T. V. Paul, N. Thomas.
F Many types of DNA damage can be detected
with two-dimensional strandness-dependent
J. J. Jonsson, B. Gudmundsson, H. G.
Thormar, A. G. Sigurdsson, S. Thongthip, M. Steinarsdottir,
A. Smogorzewska.
W Next-generation molecular diagnosis of patients
with retinal degeneration.
L. Lan, N. Li, J. Chiang.
T Using targeted next-generation sequencing for
diagnosis and screening in newborns.
T. D. Sokolsky,
E. W. Naylor, A. Bhattacharjee.
F Targeted sequencing of genes causing atypical
hemolytic uremic syndrome and coagulation disorders.
S. Theru Arumugam, K. Meganathan, D. Kissell, S. Jodele,
R. Gruppo, K. Zhang.
W Application of targeted next-generation
sequencing in clinical diagnostics.
B. Sikkema-Raddatz,
L. F. Johansson, E. N. de Boer, K. van Dijk-Bos, P. van
Norel, J. Dijkhuis, M. Viels, M. Meems, A. Schipper, Y. Vos,
H. Westers, B. Leegte, J. G. ter Beest, L. van der Heijden,
A. H. van der Hout, L. G. Boven, J. P. van Tintelen, R.
Almomani, R. H. Sijmons, J. D. H. Jongbloed, R. J. Sinke.
T Improved accuracy and precision in clinical
next-generation sequencing with the SmartChip TE™
target enrichment system.
J. Dunne, W. Dong, G. Hein,
S. Silveria, S. Derveaux, A. Chang, S. Anandakrishnan, M.
Leong, M. Sanchez, D. Batey, S. Husain.
F Improved genetic testing for monogenic
diabetes using targeted next-generation sequencing.
H. Lango Allen, R. Caswell, E. De Franco, S. Flanagan,
G. Hysenaj, K. Colclough, J. Houghton, M. Shepherd, A. T.
Hattersley, M. N. Weedon, S. Ellard.
W NGS data analysis for a primary
immunodeficiency gene panel using haloplex
enrichment method.
J. Durtschi, E. M. Coonrod, R. L.
Margraf, H. R. Hill, K. V. Voelkerding, A. Kumáovics.
T Detection of copy number variants in
whole exome sequencing data in routine genome
N. de Leeuw, J. Y. Hehir-Kwa, D. Lugtenberg,
M. del Rosario, J. de Ligt, R. Pfundt.
F Clinical interpretation and reporting of
secondary findings f om genome sequencing: Lessons
learned from the first 15 cases of The MedSeq P oject.
H. M. McLaughlin, J. Krier, W. J. Lane, D. Metterville,
I. Leshchiner, B. H. Funke, J. L. Vassy, M. Murray, I. S.
Kohane, S. W. Kong, C. MacRae, M. S. Lebo, R. C. Green,
H. L. Rehm, The MedSeq Project.