Name: DOE, JOHN
Accession ID: PM-XX-12345
DOB: 12/31/1999
Sex: Male
Race/Ethnicity: White
Family #: F012345
MRN: 0123456789
Referring facility: Double Helix Hospital
Referring physician: Dr. DNA
Copies to: CGC
Specimen: Blood, Peripheral
Lab Control Number: ABC123
Received: 01/24/2014
Page: 1 of 4
Test(s) performed: Whole genome sequencing
Indication for test: Clinical diagnosis and family history of DCM with arrhythmia
RESULT: Positive
Findings explain patient phenotype, Incidental findings identified
APPROACH
Sequencing of this individual's genome was performed and the data was analyzed to identify previously reported and novel variants in (1)
335 genes that have been previously implicated in various cardiac diseases and myopathies (see confidence: 0.8 position: {"bboxes": [[[0.058823529411764705, 0.1110606338038589], [0.2550734974979575, 0.1110606338038589], [0.2550734974979575, 0.13000002774325284], [0.058823529411764705, 0.13000002774325284]], [[0.5882352941176471, 0.1110606338038589], [0.897647034888174, 0.1110606338038589], [0.897647034888174, 0.13000002774325284], [0.5882352941176471, 0.13000002774325284]], [[0.058823529411764705, 0.1484882855656171], [0.1943251167247498, 0.1484882855656171], [0.1943251167247498, 0.1610640708846275], [0.058823529411764705, 0.1610640708846275]], [[0.05883978550730188, 0.16334025065104166], [0.12883646347943475, 0.16334025065104166], [0.12883646347943475, 0.1759160359700521], [0.05883978550730188, 0.1759160359700521]], [[0.05883978550730188, 0.17804132326684816], [0.2237493976268893, 0.17804132326684816], [0.2237493976268893, 0.1906171085858586], [0.05883978550730188, 0.1906171085858586]], [[0.05883968577665441, 0.19289328835227273], [0.19863774418051727, 0.19289328835227273], [0.19863774418051727, 0.20546907367128314], [0.05883968577665441, 0.20546907367128314]], [[0.32198234009586907, 0.1484882855656171], [0.4625453076331444, 0.1484882855656171], [0.4625453076331444, 0.1610640708846275], [0.32198234009586907, 0.1610640708846275]], [[0.3217870425554662, 0.16334025065104166], [0.6208310594745711, 0.16334025065104166], [0.6208310594745711, 0.1759160359700521], [0.3217870425554662, 0.1759160359700521]], [[0.32085924834207774, 0.17804132326684816], [0.5367244645660999, 0.17804132326684816], [0.5367244645660999, 0.1906171085858586], [0.32085924834207774, 0.1906171085858586]], [[0.32178691789215685, 0.19289328835227273], [0.42797811670241015, 0.19289328835227273], [0.42797811670241015, 0.20546907367128314], [0.32178691789215685, 0.20546907367128314]], [[0.647065704944087, 0.1484882855656171], [0.860082688674428, 0.1484882855656171], [0.860082688674428, 0.1610640708846275], [0.647065704944087, 0.1610640708846275]], [[0.6470819610396242, 0.16334025065104166], [0.8670970443027471, 0.16334025065104166], [0.8670970443027471, 0.1759160359700521], [0.6470819610396242, 0.1759160359700521]], [[0.6470656052134396, 0.17804132326684816], [0.817052903518178, 0.17804132326684816], [0.817052903518178, 0.1906171085858586], [0.6470656052134396, 0.1906171085858586]], [[0.6470655553481158, 0.19289328835227273], [0.7321812748129851, 0.19289328835227273], [0.7321812748129851, 0.20546907367128314], [0.6470655553481158, 0.20546907367128314]], [[0.0588070738549326, 0.22244632605350378], [0.4054866117589614, 0.22244632605350378], [0.4054866117589614, 0.2350221113725142], [0.0588070738549326, 0.2350221113725142]], [[0.05882335488313164, 0.23729829113892834], [0.6571067859923917, 0.23729829113892834], [0.6571067859923917, 0.24987407645793877], [0.05882335488313164, 0.24987407645793877]], [[0.4105882332995047, 0.2759091155697601], [0.5896237441916871, 0.2759091155697601], [0.5896237441916871, 0.29363636055378], [0.4105882332995047, 0.29363636055378]], [[0.18431373047672844, 0.29651518542357164], [0.8209837371227788, 0.29651518542357164], [0.8209837371227788, 0.31424243040759153], [0.18431373047672844, 0.31424243040759153]], [[0.058823529411764705, 0.3333333333333333], [0.1602353114707797, 0.3333333333333333], [0.1602353114707797, 0.3484848484848485], [0.058823529411764705, 0.3484848484848485]], [[0.058818630143707876, 0.35106435448232326], [0.9240538154552186, 0.35106435448232326], [0.9240538154552186, 0.3624280293782552], [0.058818630143707876, 0.3624280293782552]], [[0.05881864261003881, 0.3643939471003985], [0.6615097943474265, 0.3643939471003985], [0.6615097943474265, 0.37575758346403487], [0.05881864261003881, 0.37575758346403487]]], "char": 0, "page": 0, "part": "page_0_text.txt"} context:
Name: DOE, JOHN
Accession ID: PM-XX-12345
DOB: 12/31/1999
Sex: Male
Race/Ethnicity: White
Family #: F012345
MRN: 0123456789
Referring facility: Double Helix Hospital
Referring physician: Dr. DNA
Copies to: CGC
Specimen: Blood, Peripheral
Lab Control Number: ABC123
Received: 01/24/2014
Page: 1 of 4
Test(s) performed: Whole genome sequencing
Indication for test: Clinical diagnosis and family history of DCM with arrhythmia
RESULT: Positive
Findings explain patient phenotype, Incidental findings identified
APPROACH
Sequencing of this individual's genome was performed and the data was analyzed to identify previously reported and novel variants in (1)
335 genes that have been previously implicated in various cardiac diseases and myopathies (see
Triplet repeat expansions, translocations and large
copy number events are currently not reliably detected by genome sequencing. Furthermore, not all disease-associated genes have been
identified and the clinical significance of variation in many genes is not well understood. It is recommended that genomic sequencing data is
periodically reinterpreted, especially when new symptoms arise.
REFERENCES
Buisine MP, Cattan S, Wacrenier A, Leclerc J, Lejeune S. Identification of a patient with atypical MUTYH-associated polyposis through
detection of the KRAS c.34G>T mutation in liver metastasis. 2013. J. Clin. Oncol. 31(9):e125-7
D'Agostino VG, Minoprio A, Torreri P, Marinoni I, Bossa confidence: 0.74 position: {"bboxes": [[[0.5962793686810661, 0.7174242578371607], [0.9148088841656454, 0.7174242578371607], [0.9148088841656454, 0.728787894200797], [0.5962793686810661, 0.728787894200797]], [[0.058823529411764705, 0.7307538119229403], [0.9113236969592524, 0.7307538119229403], [0.9113236969592524, 0.7421174482865767], [0.058823529411764705, 0.7421174482865767]], [[0.05880881914126328, 0.74408336600872], [0.934941011316636, 0.74408336600872], [0.934941011316636, 0.7554470023723564], [0.05880881914126328, 0.7554470023723564]], [[0.05880881914126328, 0.7574129200944997], [0.464367635888991, 0.7574129200944997], [0.464367635888991, 0.768776556458136], [0.05880881914126328, 0.768776556458136]], [[0.058823529411764705, 0.7840909090909091], [0.17554902718737234, 0.7840909090909091], [0.17554902718737234, 0.7992424242424242], [0.058823529411764705, 0.7992424242424242]], [[0.058823529411764705, 0.801818154074929], [0.8863530377157374, 0.801818154074929], [0.8863530377157374, 0.8131817904385653], [0.058823529411764705, 0.8131817904385653]], [[0.058823529411764705, 0.8151477081607087], [0.6414853264303768, 0.8151477081607087], [0.6414853264303768, 0.826511344524345], [0.058823529411764705, 0.826511344524345]], [[0.05883828954758987, 0.841806816332268], [0.4044412351122089, 0.841806816332268], [0.4044412351122089, 0.8531704526959043], [0.05883828954758987, 0.8531704526959043]]], "char": 4625, "page": 2, "part": "page_2_text.txt"} context:
Triplet repeat expansions, translocations and large
copy number events are currently not reliably detected by genome sequencing. Furthermore, not all disease-associated genes have been
identified and the clinical significance of variation in many genes is not well understood. It is recommended that genomic sequencing data is
periodically reinterpreted, especially when new symptoms arise.
REFERENCES
Buisine MP, Cattan S, Wacrenier A, Leclerc J, Lejeune S. Identification of a patient with atypical MUTYH-associated polyposis through
detection of the KRAS c.34G>T mutation in liver metastasis. 2013. J. Clin. Oncol. 31(9):e125-7
D'Agostino VG, Minoprio A, Torreri P, Marinoni I, Bossa
C, Petrucci TC, Albertini AM, Ranzani GN, Bignami M, Mazzei F. Functional analysis of
MUTYH mutated proteins associated with familial adenomatous polyposis. 2010. DNA Repair (Amst.). 9(6):700-7
Di Gregorio C, Frattini M, Maffei S, Ponti G, Losi L, Pedroni M, Venesio T, Bertario L, Varesco L, Risio M, Ponz de Leon M.
Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 2006. Gastroenterology confidence: 0.69 position: {"bboxes": [[[0.4076618369108711, 0.841806816332268], [0.9372210533790339, 0.841806816332268], [0.9372210533790339, 0.8531704526959043], [0.4076618369108711, 0.8531704526959043]], [[0.05883828954758987, 0.8551363704180477], [0.767176509682649, 0.8551363704180477], [0.767176509682649, 0.866500006781684], [0.05883828954758987, 0.866500006781684]], [[0.05883828954758987, 0.881795478589607], [0.8009854485006893, 0.881795478589607], [0.8009854485006893, 0.8931591149532434], [0.05883828954758987, 0.8931591149532434]], [[0.05883828954758987, 0.8951249556107954], [0.9224858502157374, 0.8951249556107954], [0.9224858502157374, 0.9064885919744318], [0.05883828954758987, 0.9064885919744318]]], "char": 5314, "page": 2, "part": "page_2_text.txt"} context:
C, Petrucci TC, Albertini AM, Ranzani GN, Bignami M, Mazzei F. Functional analysis of
MUTYH mutated proteins associated with familial adenomatous polyposis. 2010. DNA Repair (Amst.). 9(6):700-7
Di Gregorio C, Frattini M, Maffei S, Ponti G, Losi L, Pedroni M, Venesio T, Bertario L, Varesco L, Risio M, Ponz de Leon M.
Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis. 2006. Gastroenterology
Yang J. 2010. Identification of a new lamin A/C mutation in a
Chinese family affected with atrioventricular block as the prominent phenotype. J. Huazhong Univ. Sci. Technol. Med. Sci. 30(1):103-7
REPORT PREPARATION by: Christina Austin-Tse, PhD on November 4, 2015
FINAL REPORT by: Ozge Birsoy, PhD on November confidence: 0.64 position: {"bboxes": [[[0.5414262659409467, 0.5056517629912405], [0.9195146747663909, 0.5056517629912405], [0.9195146747663909, 0.517015399354877], [0.5414262659409467, 0.517015399354877]], [[0.05880861967996834, 0.5189813170770202], [0.8938285478579453, 0.5189813170770202], [0.8938285478579453, 0.5304545392893781], [0.05880861967996834, 0.5304545392893781]], [[0.05882846607881434, 0.5590795651830808], [0.5454167384727329, 0.5590795651830808], [0.5454167384727329, 0.5704432015467171], [0.05882846607881434, 0.5704432015467171]], [[0.0588284162134906, 0.5724091192688605], [0.38238724851919936, 0.5724091192688605], [0.38238724851919936, 0.5837727556324969], [0.0588284162134906, 0.5837727556324969]]], "char": 2653, "page": 3, "part": "page_3_text.txt"} context:
Yang J. 2010. Identification of a new lamin A/C mutation in a
Chinese family affected with atrioventricular block as the prominent phenotype. J. Huazhong Univ. Sci. Technol. Med. Sci. 30(1):103-7
REPORT PREPARATION by: Christina Austin-Tse, PhD on November 4, 2015
FINAL REPORT by: Ozge Birsoy, PhD on November
Name: DOE, JOHN
DOB: 12/31/1999
Sex: Male
Race/Ethnicity: White
Family #: F012345
MRN: 0123456789
Referring facility: Double Helix Hospital
Referring physician: Dr. DNA
Copies to: CGC
Accession ID: PM-XX-12345
Specimen: Blood, Peripheral
Lab Control Number: ABC123
Received: 01/24/2014
Page: 1 of 2
REPORT SUPPLEMENT
COVERAGE OF ANALYZED GENES
Analysis included 335 genes that have been previously implicated in cardiac diseases and myopathies including cardiomyopathies,
myopathies, congenital heart diseases, arrhythmias, conduction disorders, and cardiac amyloid. The table below provides the list of these
genes (and their coverage at ≥8X). Please note that the presence of pathogenic variation in genes not analyzed or with incomplete coverage
cannot confidence: 0.8 position: {"bboxes": [[[0.058823529411764705, 0.1110606338038589], [0.2550734974979575, 0.1110606338038589], [0.2550734974979575, 0.13000002774325284], [0.058823529411764705, 0.13000002774325284]], [[0.058823529411764705, 0.13363632048019256], [0.1943251167247498, 0.13363632048019256], [0.1943251167247498, 0.14621210579920296], [0.058823529411764705, 0.14621210579920296]], [[0.05883978550730188, 0.1484882855656171], [0.12883646347943475, 0.1484882855656171], [0.12883646347943475, 0.1610640708846275], [0.05883978550730188, 0.1610640708846275]], [[0.05883978550730188, 0.16334025065104166], [0.22373311659869025, 0.16334025065104166], [0.22373311659869025, 0.1759160359700521], [0.05883978550730188, 0.1759160359700521]], [[0.05883978550730188, 0.17804132326684816], [0.19863784391116474, 0.17804132326684816], [0.19863784391116474, 0.1906171085858586], [0.05883978550730188, 0.1906171085858586]], [[0.32198234009586907, 0.13363632048019256], [0.4625453076331444, 0.13363632048019256], [0.4625453076331444, 0.14621210579920296], [0.32198234009586907, 0.14621210579920296]], [[0.3218194799485549, 0.1484882855656171], [0.6208635218003217, 0.1484882855656171], [0.6208635218003217, 0.1610640708846275], [0.3218194799485549, 0.1610640708846275]], [[0.3317795797111162, 0.16334025065104166], [0.5474657046249489, 0.16334025065104166], [0.5474657046249489, 0.1759160359700521], [0.3317795797111162, 0.1759160359700521]], [[0.3182878930584278, 0.17804132326684816], [0.4242512322718801, 0.17804132326684816], [0.4242512322718801, 0.1906171085858586], [0.3182878930584278, 0.1906171085858586]], [[0.5882352941176471, 0.1110606338038589], [0.897647034888174, 0.1110606338038589], [0.897647034888174, 0.13000002774325284], [0.5882352941176471, 0.13000002774325284]], [[0.647065704944087, 0.13363632048019256], [0.860082688674428, 0.13363632048019256], [0.860082688674428, 0.14621210579920296], [0.647065704944087, 0.14621210579920296]], [[0.6470819610396242, 0.1484882855656171], [0.8670970443027471, 0.1484882855656171], [0.8670970443027471, 0.1610640708846275], [0.6470819610396242, 0.1610640708846275]], [[0.647065704944087, 0.16334025065104166], [0.8170530032488256, 0.16334025065104166], [0.8170530032488256, 0.1759160359700521], [0.647065704944087, 0.1759160359700521]], [[0.6470656550787632, 0.17804132326684816], [0.7321813745436325, 0.17804132326684816], [0.7321813745436325, 0.1906171085858586], [0.6470656550787632, 0.1906171085858586]], [[0.3646974501266978, 0.22499993834832702], [0.6353133457158905, 0.22499993834832702], [0.6353133457158905, 0.24515148124309502], [0.3646974501266978, 0.24515148124309502]], [[0.058823529411764705, 0.2727272727272727], [0.3512353834763072, 0.2727272727272727], [0.3512353834763072, 0.2878787878787879], [0.058823529411764705, 0.2878787878787879]], [[0.058823529411764705, 0.2904545177112926], [0.8765885097528595, 0.2904545177112926], [0.8765885097528595, 0.30181815407492896], [0.058823529411764705, 0.30181815407492896]], [[0.058823529411764705, 0.3037840717970723], [0.9172059102775225, 0.3037840717970723], [0.9172059102775225, 0.31514770816070864], [0.058823529411764705, 0.31514770816070864]], [[0.0588381898169424, 0.31711362588285197], [0.9288676143471711, 0.31711362588285197], [0.9288676143471711, 0.3284772622464883], [0.0588381898169424, 0.3284772622464883]], [[0.0588381898169424, 0.33044317996863165], [0.10183819290859247, 0.33044317996863165], [0.10183819290859247, 0.341806816332268], [0.0588381898169424, 0.341806816332268]]], "char": 0, "page": 4, "part": "page_4_text.txt"} context:
Name: DOE, JOHN
DOB: 12/31/1999
Sex: Male
Race/Ethnicity: White
Family #: F012345
MRN: 0123456789
Referring facility: Double Helix Hospital
Referring physician: Dr. DNA
Copies to: CGC
Accession ID: PM-XX-12345
Specimen: Blood, Peripheral
Lab Control Number: ABC123
Received: 01/24/2014
Page: 1 of 2
REPORT SUPPLEMENT
COVERAGE OF ANALYZED GENES
Analysis included 335 genes that have been previously implicated in cardiac diseases and myopathies including cardiomyopathies,
myopathies, congenital heart diseases, arrhythmias, conduction disorders, and cardiac amyloid. The table below provides the list of these
genes (and their coverage at ≥8X). Please note that the presence of pathogenic variation in genes not analyzed or with incomplete coverage
cannot