QUADAUT_proband male
Homo sapiens
DNA was extracted from whole blood and was quantified with Qubit™ (Life Technologies Corporation, Carlsbad, CA, USA). The exome was captured and enriched from genomic DNA using a Nextera exome enrichment kit (Illumina Inc., San Diego, CA, USA), representing 62 Mbp of the human genome (hg19 build). Sequencing was performed with the HiScan system (Illumina Inc., San Diego, CA, USA). Fragments were aligned around the hg19 reference genome using Burrows-Wheeler alignment (BWA) and variant calling was performed with GATK (Genome Analysis Toolkit).
ENA first public
2016-12-02
ENA last update
2016-10-02
External Id
SAMEA4475346
INSDC center alias
USP
INSDC center name
University of Sao Paulo
INSDC first public
2016-12-02T17:03:05Z
INSDC last update
2016-10-02T23:54:11Z
INSDC status
public
Submitter Id
IPQHB4
age
33
bio material
IPQ
cars
33.5
cell type
whole blood cells
collected by
Psychiatry Institute - FMUSP
common name
human
neurological evaluation
Kyphoscoliosis, all deep reflexes are symmetric but slightly diminished, discrete hypotonia, gait is symmetric with large steps; no alteration of gait stability
pq exam
Did not sustained eye contact or start interaction, agitation, unmotivated laughter; inappropriate social contact, understands simple commands, difficulty obeying some commands, no imitation, non-verbal (guttural sounds and screams are present); absence of functional communication, present syndromic features and probably ID
sample name
IPQHB4
sex
male