Additional file 1: Table S1. of Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

Variants detected in NOTCH3 gene by NGS in all 40 patients the transcript RefSeq NM_000435.2. (DOC 75 kb

Additional file 2: Table S2. of Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

Overview of clinical data for patients tested using the NGS panel with a clinical diagnosis of CADASIL. (DOC 59 kb

Additional file 3: Table S3. of Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients

List of primers used for PCR amplification of exons with novel NOTCH3 mutations and variants detected by NGS. (DOC 28 kb

RHAS Maori mt DNA haplotype markers.

*<p>Previously reported Polynesian mt DNA haplotype.</p>##<p>Novel Polynesian (Maori) haplotypes, numbered following Phylotree nomenclature. B4a1a1a3 was included in a recent update to Phylotree. Variants to the CRS are indicated.</p

Estimated haplotype (h) and nucleotide (π) diversity.

<p><b><i>N</i></b><b>_ind</b> (number of sequences), <b><i>N</i></b><b>_haplo</b> (number of haplotypes), <b>h</b> (haplotype diversity), <b>π</b> (nucleotide diversity).</p

mtDNA coding variant frequencies in four human populations.

*<p>compared to CRS.</p

Phylogenetic reconstruction detailing haplogroup B4a1 in complete mtDNA sequences.

<p>This neighbour-joining tree was created in MEGA4, using the Tamura-Nei substitution model. The sequences used were sourced from Trejaut et al. (2005), and include the 20 complete Maori mtDNA's. Shown in red are the respective tribes of the Taiwanese Aboriginal sequences.</p

Novel mtDNA variants observed in 20 Maori individuals.

*<p>HVRI is non-coding. NA, not applicable; 16SrRNA, 16S ribosomal RNA; ND1, NADH dehydrogenase subunit 1; COXI, cytochrome c oxidase I; COXIII, cytochrome c oxidase III; Cyt b, cytochrome b; HVRI, hyper variable region I.</p

Map outlining migratory paths of Austronesian speaking populations, including estimated dates.

<p>Adapted from Bellwood <i>et al</i>., (2011) <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0035026#pone.0035026-Bellwood1" target="_blank">[52]</a>.</p

Variation across 20 complete Maori mtDNA sequences.

*<p>CRS = Cambridge Reference Sequence, Boldface positions represent rare variants in the CRS. As per phylotree nomenclature, variants toward a base identical-to-state to the CRS are indicated with !</p