1. Evaluation of targeted next-generation sequencing–based preimplantation genetic diagnosis of monogenic disease 
Nathan R. Treff, Ph.D., Anastasia Fedick, B.S., Xin Tao, M.S., Batsal Devkota, Ph.D., Deanne Taylor, Ph.D., Richard T. Scott, M.D. 
Fertility and Sterility 
Volume 99, Issue 5, Pages e6 (April 2013)
DOI: /j.fertnstert
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

2. Figure 1
Next-generation sequencing Integrative Genomics Viewer plots of data obtained from three preimplantation genetic diagnosis cases, representing a variety of genotypes found among the tested embryos. Each plot includes a vertical bar graph (columns on top) indicating the depth at each base. Letter codes for each position are indicated at the bottom and represent a normal human genome reference sequence. Each plot also contains multiple horizontal bars each representing an individual sequence read, with a purple symbol indicating an insertion, a black dashed line indicating a deletion, and a letter indicating a variant relative to the reference sequence. (A) CFTR ΔI507-ΔF508 case; (B) CFTR D1152H-W1282X case; and (C) FKTN c.1167insA case. CF = cystic fibrosis; WWS = Walker-Warburg syndrome.
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

3. Supplemental Figure 1
Flow chart of sample DNA processing for (A) lymphocytes and (B) embryo trophectoderm biopsies. CCS = comprehensive chromosome screening; NGS = next-generation sequencing; PCR = polymerase chain reaction; qPCR = quantitative polymerase chain reaction; SGD = single-gene disorder.
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

4. Supplemental Figure 2
Taqman allelic discrimination results from (A) purified DNA and five-lymphocyte samples from carriers of the IVS20+6T>C mutation in the IKBKAP gene, a G649D mutation in the PHEX gene, and a carrier of the c.1318C>T in the NF1 gene; and from parental DNA and trophectoderm biopsies from (B) CFTR ΔI507 and ΔF508 mutations (cystic fibrosis [CF] case 1), (C) CFTR D1152H W1282X mutations (CF case 2), and (D) FKTN c.1167insA mutation (Walker-Warburg syndrome [WWS] case).
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

5. Supplemental Figure 3
Examples of next-generation sequencing Integrative Genomics Viewer plots of data obtained on five-lymphocyte samples from two carriers of the IVS20+6T>C mutation in the IKBKAP gene, a G649D mutation in the PHEX gene, and a carrier of the c.1318C>T in the NF1 gene. Each plot includes a vertical bar graph (columns on top) indicating the depth at each base. Letter codes for each position are indicated at the bottom and represent a normal human genome reference sequence. Each plot also contains multiple horizontal bars each representing an individual sequence read, with a purple symbol indicating an insertion, a black dashed line indicating a deletion, and a letter indicating a variant relative to the reference sequence.
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

6. Supplemental Figure 4
qPCR-based trophectoderm biopsy CCS (24-chromosome copy number) plots from carriers of the (A) CFTR ΔI507 and ΔF508 mutations (CF case 1), (B) CFTR D1152H W1282X mutations (CF case 2), and (C) FKTN c.1167insA mutation (WWS case). Abbreviations as in Supplemental Figures 1 and 2.
Fertility and Sterility  , e6DOI: ( /j.fertnstert )
Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions