As part of the health assessment of newborn babys, a test for common genetic conditions is done by drawing a few drops of blood from the heel of the baby and sending this off for analysis. Any positive results will then be followed up by confirmatory test and a treatment can be initiated if required. The conditions are mostly life-threatening or disabeling for the child if undiagnosed or left untreated.
Below is a list of conditions that are screened as part of the current standard panel of core conditions and secondary conditions in the US-american health system. Secondary conditions are results that will be additionally (unintentinally) revealed when testing for the core conditions. If desired there are even more options for testing (supplemental screening). What test are offered or paid for depends on the state and the insurance. This information is taken from babysfirsttest.org.
1. Metabolic Disorders
ORGANIC ACID CONDITIONS
- 2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)
- 2-Methylbutyrylglycinuria (2MBG)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG) *
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) *
- 3-Methylglutaconic Aciduria (3MGA)
- Beta-Ketothiolase Deficiency (BKT) *
- Ethylmalonic Encephalopathy (EME)
- Glutaric Acidemia, Type I (GA-1) *
- Holocarboxylase Synthetase Deficiency (MCD)
- Isobutyrylglycinuria (IBG)
- Isovaleric Acidemia (IVA) *
- Malonic Acidemia (MAL)
- Methylmalonic Acidemia (Cobalamin Disorders) (Cbl A,B) *
- Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT) *
- Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)
- Propionic Acidemia (PROP) *
FATTY ACID OXIDATION DISORDERS
- 2,4 Dienoyl-CoA Reductase Deficiency (DE RED)
- Carnitine Acylcarnitine Translocase Deficiency (CACT)
- Carnitine Palmitoyltransferase I Deficiency (CPT-IA)
- Carnitine Palmitoyltransferase Type II Deficiency (CPT-II)
- Carnitine Uptake Defect (CUD) *
- Glutaric Acidemia, Type II (GA-2)
- Long-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) *
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD) *
- Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCAT)
- Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)
- Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
- Trifunctional Protein Deficiency (TFP) *
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD) *
AMINO ACID DISORDERS
- Argininemia (ARG)
- Argininosuccinic Aciduria (ASA) *
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Carbamoyl Phosphate Synthetase I Deficiency (CPS)
- Citrullinemia, Type I (CIT) *
- Citrullinemia, Type II (CIT II)
- Classic Phenylketonuria (PKU) *
- Homocystinuria (HCY) *
- Hypermethioninemia (MET)
- Hyperornithine with Gyrate Deficiency (Hyper ORN)
- Maple Syrup Urine Disease (MSUD) *
- Nonketotic Hyperglycinemia (NKH)
- Ornithine Transcarbamylase Deficiency (OTC)
- Prolinemia (PRO)
- Tyrosinemia, Type I (TYR I) *
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)
2. Endocrine Disorders
- Congenital Adrenal Hyperplasia (CAH) *
- Primary Congenital Hypothyroidism (CH) *
3. Hemoglobin Disorders
- Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
- Hemoglobinopathies (Var Hb)
- S, Beta-Thalassemia (Hb S/ßTh) *
- S, C Disease (Hb S/C) *
- Sickle Cell Anemia (Hb SS) *
4. Other Disorders
- Adrenoleukodys-trophy (ALD)
- Biotinidase Deficiency (BIOT) *
- Classic Galactosemia (GALT) *
- Congenital Toxoplasmosis (TOXO)
- Critical Congenital Heart Disease (CCHD) *
- Cystic Fibrosis (CF) *
- Formiminoglutamic Acidemia (FIGLU)
- Galactoepimerase Deficiency (GALE)
- Galactokinase Deficiency (GALK)
- Hearing loss (HEAR)
- Human Immunodeficiency Virus (HIV)
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH)
- Pyroglutamic Acidemia (5-OXO)
- Severe Combined Immunodeficiency (SCID) *
- T-cell Related Lymphocyte Deficiencies
5. Lysosomal Storage Disorders
- Fabry (FABRY)
- Gaucher (GBA)
- Mucopolysaccharidosis Type-I (MPS I)
- Mucopolysaccharidosis Type-II (MPS II)
- Niemann-Pick Disease (NPD)
- Pompe (POMPE)
See more at: www.babysfirsttest.org
As the largest cloud computing company Amazon Web Services (AWS) offers various options to use compute-power on a "as-needed" basis. You can choose what size and type of machine, what number of machines - and you can choose a price model where you are "bidding" for the resource. This means you might have to wait longer to get it, but you will get an impressive discount! You can choose your machines from the AWS dashboard.
Here is a comparison of the current prices for "General Purpose - Current Generation" AWS machines in the EU (Frankfurt) region (as of 13/04/2017):
|vCPU||ECU||Memory (GiB)||Instance Storage (GB)||Linux / UNIX Usage||On-Demand Price per Hour||Spot Price per Hour||Saving %|
This only shows a selection of machine options and the prices obviously change over time - but the message should be clear...
For any large software project (i.e. one that requires more than a few scripts preforming a one-off task) and for every project that was initiated by a customer request, it is useful to precisely define the requirements before starting to write any code. This might be painful at times and slow down the coding fun, but it should avoid a lot of frustration on either side in the end.
Here is a short summary of what Software Requirements Specification (SRS) (IEEE 830) are, how to write them, what they are good for.
SRS is a complete description of the behavior of a system to be developed, including use cases.
The benefits of writing specifications when planning a software project are:
- Establish the basis for agreement between the customers and the suppliers on what the software product is to do.
- Reduce the development effort by avoiding redesign, recoding, and retesting and revealing omissions, misunderstandings, and inconsistencies early in the development cycle.
- Provide a basis for estimating costs and schedules.
- Provide a baseline for validation (comparison against what the customer needs) and verification (comparison with the formal specifications).
- Facilitate transfer to new users or new machines.
- Serve as a basis for enhancement.
Key points to address:
- Required functionality.
- External interfaces.
- Design constraints imposed on an implementation.
Avoid design details and coding details in the specs. Hardware requirements etc. go into general System Specifications, not SRS. The content and language of the document should fit the description with the following key words:
Complete, Consistent, Accurate, Modifiable, Ranked, Testable, Traceable, Unambiguous, Valid, Verifiable
Descriptions of "use cases", mock-up GUI components and other visual aids are extremely useful to communicate with the parties involved.
As part of the Primary Analysis Illumina sequencing machines measure the intensity of the channels used for encoding the different bases and identify the most likely base at a given position of a sequencing read (tag). The Real Time Analysis (RTA) software writes the base and the confidence in the call as a quality score to base call (.bcl) files. As the name implies this is done in real time, i.e. for every cycle of the sequencing run a call for every location identified on the flow cell (tiles and lanes) is added. Bcl files are stored in binary format and represent the raw data output of a sequencing run. The format is described here. Software such as Casava/BclToFastq, Eland or the iSAAC aligner can make use of these files.
The *.bcl files are stored in the BaseCalls directory:
They are named in the format:
If you want to overcome errors during downstream processing from missing calls, software such as iSAAC and configureBclToFastq have an "--ignore-missing-bcl" command line option. This will interpret missing *.bcl files as no call (N) at that position.
Sources: Illumina, SeqAnswers
Some researchers and clinicians believe embryo morphology and development characteristics can be used to assess the viability of IVF embryos to increase chances of a successful pregnancy.
Healthy embryos, i.e. the most viable zygotes that will develop into blastocysts and further seem to follow a specific growth pattern between development day 3 and re-implantation on day 5:
Growth from 2 to 3 cells should be seen in 9 - 11 hours, from 3 to 4 cells in under 2 hours. Reaching day 5 is a critical as the embryo will be re-implanted into the uterus and will attach to the endometrium. The normal development process is shown in figure 1 (source: CMFT NHS):
Embryo morphology is graded on a scale of 1 to 5 as shown in fig 2 (source: CMFT NHS):
Embryo cell division can be monitored through the use of an "embryoscope", an incubator with integrated camera. Time-lapse pictures are analysed by an embryologist to help select viable embryos. Systems that help the monitoring process are e.g. the "Early Embryo Viability Assessment" (Eeva) software by Auxogyn.
Cell tracking and embryo assessment with Eeva (YouTube)