B. Arveiler, E. Lasseaux, and F. Morice-picard, Clinique et génétique de l'albinisme. Presse Médicale. 1 juill, vol.46, issue.7, pp.648-54, 2017.

E. S. Hong, H. Zeeb, and M. H. Repacholi, Albinism in Africa as a public health issue, BMC Public Health. 17 août, vol.6, p.212, 2006.

S. Lee, R. D. Nicholls, S. Bundey, R. Laxova, M. Musarella et al., Mutations of the P Gene in Oculocutaneous Albinism, Ocular Albinism, and Prader-Willi Syndrome Plus Albinism, N Engl J Med. 24 févr, vol.330, issue.8, pp.529-563, 1994.

W. S. Oetting and R. A. King, Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism, Hum Mutat, vol.13, issue.2, pp.99-115, 1999.

A. N. Okoro, Albinism in Nigeria. A clinical and social study, Br J Dermatol. mai, vol.92, issue.5, pp.485-92, 1975.

M. Mártinez-garcía and L. Montoliu, Albinism in Europe, J Dermatol. mai, vol.40, issue.5, pp.319-343, 2013.

K. Inagaki, T. Suzuki, H. Shimizu, N. Ishii, Y. Umezawa et al., Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan, Am J Hum Genet. mars, vol.74, issue.3, pp.466-71, 2004.

D. Miyamichi, M. Asahina, J. Nakajima, M. Sato, K. Hosono et al., Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism, J Hum Genet. 26 mai, 2016.

K. Fukai, J. Oh, E. Frenk, C. Almodóvar, and R. A. Spritz, Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3, Hum Mol Genet. 1 sept, vol.4, issue.9, pp.1665-1674, 1995.

M. Torres-serrant, S. I. Ramirez, C. L. Cadilla, G. Ramos-valencia, and P. J. Santiago-borrero, Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico, J Pediatr Hematol Oncol. août, vol.32, issue.6, pp.448-53, 2010.

T. Pillaiyar, M. Manickam, and S. Jung, Downregulation of melanogenesis: drug discovery and therapeutic options, Drug Discov Today. 1 févr, vol.22, issue.2, pp.282-98, 2017.

R. A. Sturm and D. L. Duffy, Human pigmentation genes under environmental selection, Genome Biol. 26 sept, vol.13, issue.9, p.248, 2012.

S. Videira-if-dos, D. Moura, and S. Magina, Mechanisms regulating melanogenesis, An Bras Dermatol, vol.88, issue.1, pp.76-83, 2013.

M. Huizing, A. Helip-wooley, W. Westbroek, M. Gunay-aygun, and W. A. Gahl, Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics, Annu Rev Genomics Hum Genet, vol.9, pp.359-86, 2008.

A. Sitaram and M. S. Marks, Mechanisms of protein delivery to melanosomes in pigment cells, Physiol Bethesda Md. avr, vol.27, issue.2, pp.85-99, 2012.

C. C. Kruijt, G. C. De-wit, A. A. Bergen, R. J. Florijn, N. E. Schalij-delfos et al., The Phenotypic Spectrum of Albinism. Ophthalmology. 8 août, 2018.

E. Herrera, Genetics and development of the optic chiasm, Front Biosci, vol.13, issue.13, p.1646, 2008.

A. V. Levin and E. Stroh, Albinism for the busy clinician, J Am Assoc Pediatr Ophthalmol Strabismus. 1 févr, vol.15, issue.1, pp.59-66, 2011.

B. K. Mccafferty, M. A. Wilk, J. T. Mcallister, K. E. Stepien, A. M. Dubis et al., Clinical Insights Into Foveal Morphology in Albinism, J Pediatr Ophthalmol Strabismus, vol.52, issue.3, pp.167-72, 2015.

A. Lavado, G. Jeffery, V. Tovar, P. De-la-villa, and L. Montoliu, Ectopic expression of tyrosine hydroxylase in the pigmented epithelium rescues the retinal abnormalities and visual function common in albinos in the absence of melanin, J Neurochem. févr, vol.96, issue.4, pp.1201-1212, 2006.

E. C. Dell'angelica, The building BLOC(k)s of lysosomes and related organelles, Curr Opin Cell Biol. août, vol.16, issue.4, pp.458-64, 2004.

N. Thielen, M. Huizing, J. G. Krabbe, J. G. White, T. J. Jansen et al., HermanskyPudlak syndrome: the importance of molecular subtyping, J Thromb Haemost. 1 juill, vol.8, issue.7, pp.1643-1648, 2010.

A. De-leusse, E. Dupuy, M. Huizing, C. Danel, G. Meyer et al., Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome, Gastroenterol Clin Biol. avr, vol.30, issue.4, pp.621-625, 2006.

S. Ammann, A. Schulz, I. Krägeloh-mann, N. Dieckmann, K. Niethammer et al., Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome, Blood. 25 févr, vol.127, issue.8, pp.997-1006, 2016.

S. K. Kiprono, B. M. Chaula, and H. Beltraminelli, Histological review of skin cancers in African Albinos: a 10-year retrospective review, BMC Cancer. 6 mars, vol.14, p.157, 2014.

P. T. Lekalakala, R. Khammissa, B. Kramer, O. A. Ayo-yusuf, J. Lemmer et al., Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa, J Skin Cancer, 2015.

M. Norval and C. Y. Wright, The Epidemiology of Cutaneous Melanoma in the White and Black African Population Groups in South Africa, Ward WH, Farma JM, éditeurs. Cutaneous Melanoma: Etiology and Therapy

G. Brisbane-;-westhuizen, C. A. Beukes, B. Green, W. Sinclair, and J. Goedhals, A histopathological study of melanocytic and pigmented skin lesions in patients with albinism, J Cutan Pathol, vol.42, issue.11, pp.840-846, 2015.

K. E. Schulze, R. P. Rapini, and M. Duvic, Malignant melanoma in oculocutaneous albinism, Arch Dermatol, vol.125, issue.11, pp.1583-1589, 1989.

J. R. Federico, K. Krishnamurthy, and . Albinism, Treasure Island (FL): StatPearls Publishing, StatPearls [Internet, 2018.

L. Mauri, E. Manfredini, D. Longo, A. Veniani, E. Scarcello et al., Clinical evaluation and molecular screening of a large consecutive series of albino patients, J Hum Genet. févr, vol.62, issue.2, pp.277-90, 2017.

H. Hayashi, M. Sone, P. A. Schachern, K. Wakamatsu, M. M. Paparella et al., Comparison of the quantity of cochlear melanin in young and old C57BL/6 mice, Arch Otolaryngol Head Neck Surg. févr, vol.133, issue.2, pp.151-155, 2007.

B. M. Lin, W. Li, S. G. Curhan, K. M. Stankovic, A. A. Qureshi et al., Skin Pigmentation and Risk of Hearing Loss in Women, Am J Epidemiol. 1 juill, vol.186, issue.1, p.1, 2017.

K. Lezirovitz, F. S. Nicastro, E. Pardono, R. S. Abreu-silva, A. C. Batissoco et al., Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome, J Hum Genet. août, vol.51, issue.8, pp.716-736, 2006.

R. Morell, R. A. Spritz, L. Ho, J. Pierpont, W. Guo et al., Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA), Hum Mol Genet. mai, vol.6, issue.5, pp.659-64, 1997.

P. Chiang, E. Spector, and T. L. Mcgregor, Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism, Am J Med Genet A. déc, vol.149, issue.12, pp.2739-2783, 2009.

Y. Tomita, A. Takeda, S. Okinaga, H. Tagami, and S. Shibahara, Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene, Biochem Biophys Res Commun, vol.15, issue.3, pp.990-996, 1989.

S. Monfermé, E. Lasseaux, C. Duncombe-poulet, C. Hamel, S. Defoort-dhellemmes et al., Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene, Br J Ophthalmol, 2018.

E. M. Rinchik, S. J. Bultman, B. Horsthemke, S. T. Lee, K. M. Strunk et al., A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism, Nature. 7 janv, vol.361, issue.6407, pp.72-78, 1993.

A. Gargiulo, F. Testa, S. Rossi, D. Iorio, V. Fecarotta et al., Molecular and Clinical Characterization of Albinism in a Large Cohort of Italian Patients, Invest Ophthalmol Vis Sci. mars, vol.52, issue.3, pp.1281-1290, 2011.

R. E. Boissy, H. Zhao, W. S. Oetting, L. M. Austin, S. C. Wildenberg et al., Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as « OCA3 », Am J Hum Genet. juin, vol.58, issue.6, pp.1145-56, 1996.

J. M. Newton, O. Cohen-barak, N. Hagiwara, J. M. Gardner, M. T. Davisson et al., Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4, Am J Hum Genet, vol.69, issue.5, pp.981-989, 2001.

B. Bin, J. Bhin, S. H. Yang, M. Shin, Y. Nam et al., Membrane-Associated Transporter Protein (MATP) Regulates Melanosomal pH and Influences Tyrosinase Activity, PLOS ONE. 9 juin, vol.10, issue.6, p.129273, 2015.

T. Kausar, M. A. Bhatti, M. Ali, R. S. Shaikh, and Z. M. Ahmed, OCA5, a novel locus for nonsyndromic oculocutaneous albinism, maps to chromosome 4q24, Clin Genet. juill, vol.84, issue.1, pp.91-94, 2013.

A. Wei, D. Zang, Z. Zhang, X. Liu, X. He et al., Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism, J Invest Dermatol. 1 juill, vol.133, issue.7, pp.1834-1874, 2013.

F. Morice-picard, E. Lasseaux, S. François, D. Simon, C. Rooryck et al., SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism, J Invest Dermatol. 1 févr, vol.134, issue.2, pp.568-71, 2014.

E. Lasseaux, C. Plaisant, V. Michaud, P. Pennamen, A. Trimouille et al., Molecular characterization of a series of 990 index patients with albinism, Pigment Cell Melanoma Res, 2018.

K. Grønskov, C. M. Dooley, E. Østergaard, R. N. Kelsh, L. Hansen et al., Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism, Am J Hum Genet. 7 mars, vol.92, issue.3, pp.415-436, 2013.

H. Mayeur, O. Roche, C. Vêtu, C. Jaliffa, D. Marchant et al., Eight previously unidentified mutations found in the OA1 ocular albinism gene, BMC Med Genet. 28 avr, vol.7, p.41, 2006.
URL : https://hal.archives-ouvertes.fr/inserm-00080394

G. E. Lang, H. D. Rott, and R. A. Pfeiffer, X-linked ocular albinism. Characteristic pattern of affection in female carriers, Ophthalmic Paediatr Genet. déc, vol.11, issue.4, pp.265-71, 1990.

M. M. Van-genderen, F. Riemslag, J. Schuil, F. P. Hoeben, J. S. Stilma et al., Chiasmal misrouting and foveal hypoplasia without albinism, Br J Ophthalmol. sept, vol.90, issue.9, pp.1098-102, 2006.

M. Al-araimi, B. Pal, J. A. Poulter, M. M. Van-genderen, I. Carr et al., A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Mol Vis, vol.19, pp.2165-72, 2013.

J. A. Poulter, M. Al-araimi, I. Conte, M. M. Van-genderen, E. Sheridan et al., Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism, Am J Hum Genet. 5 déc, vol.93, issue.6, pp.1143-50, 2013.

E. C. Dell'angelica, V. Shotelersuk, R. C. Aguilar, W. A. Gahl, and J. S. Bonifacino, Altered Trafficking of Lysosomal Proteins in Hermansky-Pudlak Syndrome Due to Mutations in the ?3A Subunit of the AP-3 Adaptor, Mol Cell. janv, vol.3, issue.1, pp.11-21, 1999.

R. Badolato, A. Prandini, S. Caracciolo, F. Colombo, G. Tabellini et al., Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome, Blood. 29 mars, vol.119, issue.13, pp.3185-3192, 2012.

W. Li, Q. Zhang, N. Oiso, E. K. Novak, R. Gautam et al., Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1), Nat Genet. sept, vol.35, issue.1, pp.84-93, 2003.

N. V. Morgan, S. Pasha, C. A. Johnson, J. R. Ainsworth, R. Eady et al., A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of HermanskyPudlak Syndrome (HPS8), Am J Hum Genet. janv, vol.78, issue.1, pp.160-166, 2006.

M. L. Wei, Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function, Pigment Cell Res. 1 févr, vol.19, issue.1, pp.19-42, 2006.

Y. Anikster, M. Huizing, J. White, Y. O. Shevchenko, D. L. Fitzpatrick et al., Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico, Nat Genet. août, vol.28, issue.4, pp.376-80, 2001.

Q. Zhang, B. Zhao, W. Li, N. Oiso, E. K. Novak et al., Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6, Nat Genet. févr, vol.33, issue.2, pp.145-53, 2003.

D. Pietro, S. M. Falcón-pérez, J. M. , D. &. Angelica, and E. C. , Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6, Traffic Cph Den. avr, vol.5, issue.4, pp.276-83, 2004.

R. Gautam, S. Chintala, W. Li, Q. Zhang, J. Tan et al., The Hermansky-Pudlak Syndrome 3 (Cocoa) Protein Is a Component of the Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2), J Biol Chem. 26 mars, vol.279, issue.13, pp.12935-12977, 2004.

A. Helip-wooley, W. Westbroek, H. M. Dorward, A. Koshoffer, M. Huizing et al., Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5, J Invest Dermatol. juin, vol.127, issue.6, pp.1471-1479, 2007.

M. Huizing, B. Pederson, R. A. Hess, A. Griffin, A. Helip-wooley et al., Clinical and cellular characterization of Hermansky-Pudlak syndrome type-6, J Med Genet. déc, vol.46, issue.12, pp.803-813, 2009.

A. Wei and W. Li, Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis, Pigment Cell Melanoma Res. 1 mars, vol.26, issue.2, pp.176-92, 2013.

M. A. Karim, K. Suzuki, K. Fukai, J. Oh, D. L. Nagle et al., Apparent genotypephenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome, Am J Med Genet. 15 févr, vol.108, issue.1, pp.16-22, 2002.

C. Toro, E. Nicoli, M. C. Malicdan, D. R. Adams, W. Introne et al., Chediak-Higashi Syndrome

A. Marti, E. Lasseaux, K. Ezzedine, C. Léauté-labrèze, F. Boralevi et al., Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting, Pigment Cell Melanoma Res. mars, vol.31, issue.2, pp.318-347, 2018.

K. Grønskov, J. Ek, K. Brondum-nielsen, and . Oculocutaneous, Orphanet J Rare Dis, vol.2, p.43, 2007.

M. V. Schiaffino, M. Addio, A. Alloni, C. Baschirotto, C. Valetti et al., Ocular albinism: evidence for a defect in an intracellular signal transduction system, Nat Genet. sept, vol.23, issue.1, pp.108-120, 1999.

R. A. King, J. Pietsch, J. P. Fryer, S. Savage, M. J. Brott et al., Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype, Hum Genet, vol.113, issue.6, pp.502-515, 2003.

F. Morice-picard, E. Lasseaux, D. Cailley, A. Gros, J. Toutain et al., Highresolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene, Pigment Cell Melanoma Res. janv, vol.27, issue.1, pp.59-71, 2014.

C. Rooryck, F. Morice-picard, E. Lasseaux, D. Cailley, H. Dollfus et al., High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients, Hum Genet. févr, vol.129, issue.2, pp.199-208, 2011.

C. Rooryck, F. Morice-picard, N. H. Elçioglu, D. Lacombe, A. Taieb et al., Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res, vol.21, pp.583-590, 2008.

F. Niel, J. Martin, M. Dastot-le, B. Costes, B. Boissier et al., Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis, J Med Genet, vol.41, issue.11, p.118, 2004.

M. Stef, D. Simon, B. Mardirossian, M. Delrue, I. Burgelin et al., Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients, Eur J Hum Genet EJHG. août, vol.15, issue.8, pp.843-850, 2007.

M. Stef, D. Simon, I. Burgelin, I. Guisle, C. Chevalier et al., Testing and improving experimental parameters for the use of low molecular weight targets in array-CGH experiments, Hum Mutat, vol.27, issue.11, pp.1143-50, 2006.

D. Durham-pierre, J. M. Gardner, Y. Nakatsu, R. A. King, U. Francke et al., African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism, Nat Genet. juin, vol.7, issue.2, pp.176-185, 1994.

M. Zhao, Q. Wang, Q. Wang, P. Jia, and Z. Zhao, Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives, BMC Bioinformatics, vol.14, issue.11, p.1, 2013.

A. Bertolotti, E. Lasseaux, C. Plaisant, A. Trimouille, F. Morice-picard et al., Identification of a homozygous mutation of SLC24A5 (OCA6) in two patients with oculocutaneous albinism from French Guiana, Pigment Cell Melanoma Res. janv, vol.29, issue.1, pp.104-110, 2016.

K. Grønskov, J. Ek, A. Sand, R. Scheller, A. Bygum et al., Birth Prevalence and Mutation Spectrum in Danish Patients with Autosomal Recessive Albinism, Invest Ophthalmol Vis Sci. 1 mars, vol.50, issue.3, pp.1058-64, 2009.

P. Apkarian and J. Shallo-hoffmann, VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study, Invest Ophthalmol Vis Sci. août, vol.32, issue.9, pp.2653-61, 1991.

D. R. Simeonov, X. Wang, C. Wang, Y. Sergeev, M. Dolinska et al., DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics, Hum Mutat. juin, vol.34, issue.6, pp.827-862, 2013.

J. H. Seo, Y. S. Yu, J. H. Kim, H. K. Choung, J. W. Heo et al., Correlation of visual acuity with foveal hypoplasia grading by optical coherence tomography in albinism, Ophthalmology. août, vol.114, issue.8, pp.1547-51, 2007.

L. Regales, P. Giraldo, A. García-díaz, A. Lavado, and L. Montoliu, Identification and functional validation of a 5' upstream regulatory sequence in the human tyrosinase gene homologous to the locus control region of the mouse tyrosinase gene, Pigment Cell Res. déc, vol.16, issue.6, pp.685-92, 2003.

. Vi, Annexes Annexe 1 : Fiche de renseignements cliniques NNSplice (www.fruitfly.org/seq_tools/splice.html

, Séquençage Sanger Les variants mis en évidence par NGS ont été confirmés par un séquençage Sanger avec un objectif double de validation et d'identitovigilance. Cette technique utilise le kit BigDye V3

, sur le séquenceur 3500Dx XL (Thermo Fischer Life Science). Les parents et les apparentés des

, Analyse chromosomique sur puce à ADN (ACPA) ou comparative genomic hybridization on DNA array

T. Oca2=2040, . Slc45a2=306, . Slc24a5=247, . Lrmda/c10orf11=7932, and L. Ap3d1=380, ADN est marqué en cyanine 3 ou cyanine 5 en utilisant le kit du fabricant Genomic DNA ULS Labeling puis il est hybridé sur la puce d'après les instructions du fabricant. L'ADN de chaque patient est analysé en comparant à l'ADN d'un témoin qui ne présente pas d'anomalies du nombre de copies. La puce est ensuite scannée grâce à un scanner G2505C scanner (Agilent Technologies). Les données sont analysées par le logiciel Cytogenomics 3.0 qui permet de mettre en évidence les anomalies du nombre de copies, Une analyse par ACPA haute résolution contenant les 19 gènes d'albinisme a été mise en place comme décrit dans (72,73). Les sondes ont été sélectionnées dans le catalogue d'Agilent Technologies

, 3 en fixant l'algorithme statistique « Aberration Detection Method-2 » à 5. 2. Quantitative Multiplex Fluorecsent Polymerase Chain Reaction, vol.0

, Cette technique permet de mettre en évidence au niveau de chaque exon des délétions ou duplications en arrêtant la réaction de PCR en phase exponentielle, où la quantité de produits d'amplification est proportionnelle au nombre de copies de la séquence cible. Des amorces marquées par le phosphoramidite 6-FAM sont utilisées lors de la réaction d'amplification (75-77). Deux loci sont utilisés comme contrôle, DSCR1 situé sur le chromosome 21 et le Facteur IX (FIX) situé sur le chromosome X qui, Au laboratoire, l'analyse de réarrangements intragéniques pour les gènes TYR, OCA2, TYRP1, SLC45A2 et GPR143 a été initialement mise en place par QMF-PCR (73,74)

, Dans le cas des gènes pour lesquels nous ne disposons pas de QMF-PCR et/ou si une délétion est suspectée dans un intron, une q-PCR est réalisée. Cette technique permet de mesurer l'amplification tout au long de la réaction

I. Sybergreen, ADN détectée correspond au nombre d'amplicons produits ce qui permet de quantifier le nombre de copies. Des amorces sont désignées pour se situer au sein de la délétion suspectée et permettent d'amplifier un fragment d'environ 150 pb. L'analyse est faite en triplicat en comparant avec des témoins homme et femme et en utilisant deux gènes rapporteurs ALB et SU1

, Analyse de profondeur de lecture

, Des réarrangements sont suspectés lors du NGS en utilisant un plug-in développé par l'ingénieure bioinformatique de l'équipe basé sur la profondeur de lectures (nombre de fois qu'un fragment est séquencé). Le principe mathématique permet de mettre en évidence des