Chain22: Risk of sudden death

Determine the risk of sudden death

Relevant info

Understand predisposition to sudden death

Example use A

Preventable measures through medication

Example use B

Preventable measures through screening habits

Other uses

Preventable measures through medical devices

Developer

Dr. Colby

Genetic info

Genes	Genetic variants
KCNJ2	chr17:68171481,chr17:68171403,chr17:68172231
MTTL1	chrMT:3291,chrMT:3304
KCNH2	chr7:150655245,chr7:150671913,chr7:150671819,chr7:150654573,chr7:150649832,chr7:150649763,chr7:150648800,chr7:150648799,chr7:150648671,chr7:150648643,chr7:150648640,chr7:150648599,chr7:150647450,chr7:150646072,chr7:150646069,chr7:150644528,chr7:150642476,chr7:150655228,chr7:150644415,chr7:150654379,chr7:150648009,chr7:150648703
DES	chr2:220283230,chr2:220290454,chr2:220285374,chr2:220286086,chr2:220290449,chr2:220290704,rs34337334,chr2:220283506,chr2:220290674,chr2:220286072
TNNI3	chr19:55665514,chr19:55665415,chr19:55663260,chr19:55668953,chr19:55663225
MTTG	chrMT:10044,chrMT:9997
ANKRD1	chr10:92678728,rs35550482,chr10:92679964,chr10:92679936,chr10:92678920,chr10:92678914,chr10:92677489,chr10:92675983,chr10:92675311,chr10:92679979,chr10:92678707
KCNE2	rs16991652,rs2234916,chr21:35743006,chr21:35743124,chr21:35742970,chr21:35742938
ANK2	chr4:114269433,chr4:114269433,chr4:114288920,chr4:114294462,chr4:114294318,chr4:114294537,chr4:114288907,chr4:114286207
KCNQ1	chr11:2604687,chr11:2604663,chr11:2592624,chr11:2593286,chr11:2604765,chr11:2608843,chr11:2610045,chr11:2790133,rs179489,chr11:2591882,chr11:2591945,chr11:2593319,chr11:2594101,chr11:2604683,chr11:2604716,chr11:2798232,chr11:2799245,chr11:2466715,chr11:2604775,chr11:2604780,chr11:2594182
DSG2	chr18:29099850,chr18:29101156,chr18:29126108,chr18:29100809,chr18:29104717,chr18:29121154,chr18:29118734,chr18:29099830,chr18:29104755,chr18:29104828,chr18:29111109,chr18:29116261,chr18:29125783
CAV3	chr3:8787330,chr3:8787520,chr3:8787288,chr3:8787350,chr3:8787387
TPM1	chr15:63336320,chr15:63353922,chr15:63336229,chr15:63353090
MYO6	chr6:76551016
ACTC	chr15:35083386,chr15:35083364,chr15:35082659,chr15:35084722,chr15:35084404,chr15:35083416
TNNT2	chr1:201334745,chr1:201334372,chr1:201330455,chr1:201328750,chr1:201333464,rs45578238
SLC25A4	chr4:186066174
SCN5A	chr3:38622661,chr3:38601909,chr3:38645558,rs6791924,chr3:38674773,chr3:38647543,chr3:38645241,rs7626962,chr3:38645430,chr3:38640489,chr3:38616876,chr3:38648200,chr3:38674719,chr3:38651314,chr3:38649685,chr3:38648248,chr3:38648173,chr3:38646321,chr3:38639440,chr3:38627504,chr3:38627418,chr3:38627240,chr3:38607956,chr3:38598727,chr3:38597185,chr3:38592635,chr3:38603958,chr3:38601895,chr3:38592995,chr3:38592513,chr3:38592125,chr3:38591990,chr3:38647954,chr3:38597170
RYR2	chr1:237804256,chr1:237947302,chr1:237798237,chr1:237798261,chr1:237923082,chr1:237947324,chr1:237954741,chr1:237993879,chr1:237802319,chr1:237804240,chr1:237804283,chr1:237804288,chr1:237811823,chr1:237923149,chr1:237942026,chr1:237947238,chr1:237947448,chr1:237954764,chr1:237954780,chr1:237955507,chr1:237961337,chr1:237995891,chr1:237995919,chr1:237954748,chr1:237991691,chr1:237991729,chr1:237494239,chr1:237811912,chr1:237540686,chr1:237617696,chr1:237947484,chr1:237947614,chr1:237993857,chr1:237958623,chr1:237540649,chr1:237608770,chr1:237608788
PKP2	chr12:33049590,chr12:33031955,chr12:33031417,chr12:33003841,chr12:33003807,chr12:32994037,chr12:32975528,chr12:32975460,chr12:32975421,chr12:32975412,chr12:32974407,chr12:32974373,chr12:32974340,chr12:32955460,chr12:32955433,chr12:32949146,chr12:32949111,chr12:32945611,chr12:32955491,chr12:32949048,chr12:32949042,chr12:33003909,chr12:33030832
DMD	rs16990264,chrX:31222203,chrX:33229398,chrX:32841411,chrX:33038295,chrX:32716112
LMNA	chr1:156104288,chr1:156084774,chr1:156105716,chr1:156106150,chr1:156100532,chr1:156105801,chr1:156105885,chr1:156100449,chr1:156104600
PSEN1	chr14:73678519
MYLK2	chr20:30408136,chr20:30408160
PSEN2	chr1:227073271,chr1:227073271
TTN	chr2:179650726,chr2:179667000,chr2:179647707,chr2:179604852
COX15	chr10:101483814,chr10:101486914
LAMP2	chrX:119576454,chrX:119575717,chrX:119576520,chrX:119590551,chrX:119582861,chrX:119581695
DSP	chr6:7580222,chr6:7556049,chr6:7542236,chr6:7562986,chr6:7580187,chr6:7581747,chr6:7559458,chr6:7585118
MTTK	chrMT:8345
PLN	chr6:118880109,chr6:118880200,chr6:118880124
GPD1L	chr3:32181723,chr3:32200588,chr3:32180100
CACNA1C	chr12:2224456,chr12:2659186
CACNB2	chr10:18828274,chr10:18629887
LDB3	chr10:88446830
CASQ2	chr1:116247833,chr1:116311101,chr1:116280844,chr1:116311066
SCN3B	chr11:123524481
MYBPC3	chr11:47356655,chr11:47353826,chr11:47359280,rs2856655,chr11:47361308,rs11570082,chr11:47372907,chr11:47369442,chr11:47369209,chr11:47364650,chr11:47364129,chr11:47357495,chr11:47355293,chr11:47354512,chr11:47354127,chr11:47367923,chr11:47364709,chr11:47364487,chr11:47364128,chr11:47361201,chr11:47359371,chr11:47369403
MYL2	chr12:111352091,chr12:111356949,chr12:111356964,chr12:111356937,chr12:111353547,chr12:111351093,chr12:111350950
KCNE3	chr11:74168314
MTTH	chrMT:12193
MTTI	chrMT:4269,chrMT:4300,chrMT:4295
TNNC1	chr3:52485301,chr3:52486238,chr3:52488009,chr3:52485826,chr3:52485426
TMEM43	chr3:14183165
TGFB3	chr14:76425035,chr14:76447266
DSC2	chr18:28667778,chr18:28660152,chr18:28672114
CSRP3	rs45550635,chr11:19209759,chr11:19209792,chr11:19209834,chr11:19209828
RAF1	chr3:12645690
JUP	chr17:39913674,chr17:39927989
PRKAG2	chr7:151269750,chr7:151265836,chr7:151273498,chr7:151265887,chr7:151261285,chr7:151257646
KCNE1	chr21:35821779,chr21:35821850,chr21:35821794,chr21:35821707,chr21:35821641,chr21:35821608,chr21:35821554
SCN4B	chr11:118011980
MYL3	chr3:46902306,chr3:46901019,chr3:46901001,chr3:46900985
MYH6	chr14:23865538
MTTQ	chrMT:4367
SNTA1	chr20:31998009
MTND5	chrMT:13043
MTND6	chrMT:14488
MYH7	chr14:23897792,chr14:23900677,chr14:23898214,chr14:23896866,chr14:23894612,chr14:23894581,chr14:23894048,chr14:23893268,chr14:23893193

Qualitative

Type

text

Possible responses

Likely Affected, Not Affected, insufficient data, error

let appChainsManager = AppChains.init(token: "<YOUR TOKEN HERE>" as String, withHostName: "api.sequencing.com")
 
appChainsManager.getReportWithApplicationMethodName("Chain22", withDatasourceId: "<FILE ID HERE>", withSuccessBlock: { (result) in
            let resultReport: Report = result as Report!
 
            if resultReport.isSucceeded() {   
                if resultReport.getResults() != nil {
                    for item: AnyObject in resultReport.getResults() {
 
                        let resultObj = item as! Result
                        let resultValue: ResultValue = resultObj.getValue()
 
                        if resultValue.getType() == ResultType.Text {
                            print(resultObj.getName() + " = " + (resultValue as! TextResultValue).getData())
                        }
                    }
                }  
            } else {
                print("Error occured while getting genetic information")
            }
 
            }) { (error) in
                print("Error occured while getting genetic information. " + error.localizedDescription)
        }

AppChains *appChains = [[AppChains alloc] initWithToken:@"<YOUR TOKEN HERE>" withHostName:@"api.sequencing.com"];
    
[appChains getReportWithApplicationMethodName:@"Chain22"
		withDatasourceId:@"<FILE ID HERE>"
		withSuccessBlock:^(Report *result) {

			for (Result *obj in [result getResults]) {
				ResultValue *frv = [obj getValue];
				if ([frv getType] == kResultTypeText) {
					NSLog(@"\nvalue %@ = %@\n", [obj getName], [(TextResultValue *)frv getData]);
				}
			}
        }
        withFailureBlock:^(NSError *error) {
        	NSLog(@"Error occured: %@", [error description]);
        }];

AppChains chains = new AppChains("<YOUR TOKEN HERE>", "api.sequencing.com");
Report result = chains.getReport("StartApp", "Chain22", "<FILE ID HERE>");
 
if (result.isSucceeded() == false)
    System.out.println("Request has failed");
else
    System.out.println("Request has succeeded");
 
for (Result r : result.getResults())
{
    ResultType type = r.getValue().getType();
 
    if (type == ResultType.TEXT)
    {
        TextResultValue v = (TextResultValue) r.getValue();
        System.out.println(String.format(" -> text result type %s = %s", r.getName(), v.getData()));
    }
}

my $chains = AppChains->new("<YOUR TOKEN HERE>", "api.sequencing.com");
my $chainsResult = $chains->getReport("StartApp", "Chain22", "<FILE ID HERE>");
 
if ($chainsResult->isSucceeded()) {
    print "Request has succeeded\n";
} else {
    print "Request has failed\n";
}
 
foreach (@{$chainsResult->getResults()})
{
    my $type = $_->getValue()->getType();
 
    if ($type == ResultType->TEXT)
    {
        my $v = $_->getValue();
        print sprintf("-> text result type %s = %s\n", $_->getName(), $v->getData());
    }
}

self.chains = AppChains('<YOUR TOKEN HERE>', 'api.sequencing.com')
chains_result = self.chains.getReport('StartApp', 'Chain22', '<FILE ID HERE>')
if chains_result.isSucceeded():
    print('Request has succeeded')
    else:
        print('Request has failed')
        for r in chains_result.getResults():
            file_type = r.getValue().getType()
            v = r.getValue()
            if file_type == 'TEXT':
                print('-> text result type {} = {}'.format(
                    r.getName(), v.getData()))

$chains = new AppChains("<YOUR TOKEN HERE>", "api.sequencing.com");
$chainsResult = $chains->getReport("StartApp", "Chain22", "<FILE ID HERE>");
 
if ($chainsResult->isSucceeded())
    echo "Request has succeeded\n";
else
    echo "Request has failed\n";
 
foreach ($chainsResult->getResults() as $r)
{
    $type = $r->getValue()->getType();
 
    switch ($type)
    {
        case ResultType::TEXT:
            $v = $r->getValue();
            echo sprintf("-> text result type %s = %s\n", $r->getName(), $v->getData());
        break;
    }
}

var chains = new AppChains("<YOUR TOKEN HERE>", "https://api.sequencing.com/v1", "https://beacon.sequencing.com/");
 
Report result = chains.GetReport("Chain22", "<FILE ID HERE>");
if (result.Succeeded == false)
    Console.WriteLine("Request has failed");
else
    Console.WriteLine("Request has succeeded");
foreach (Result r in result.getResults())
{
    ResultType type = r.getValue().getType();
 
    if (type == ResultType.TEXT)
    {
        var v = (TextResultValue) r.getValue();
        Console.WriteLine(" -> text result type {0} = {1}", r.getName(), v.Data);
    }
}